chr11:17388025:T>C Detail (hg38) (KCNJ11, ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,409,572-17,409,572 View the variant detail on this assembly version.
hg38 chr11:17,388,025-17,388,025

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.67A>G NP_000516.3:p.Lys23Glu
NM_001166290.1:c.-16-179A>G
Ensemble ENST00000339994.5:c.67A>G ENST00000339994.5:p.Lys23Glu
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.639
ToMMo:0.638
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.640

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600937 OMIM
HGNC 6257 HGNC
Ensembl ENSG00000187486 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41765741 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2009-12-01 no assertion criteria provided Diabetes mellitus type 2, susceptibility to germline Detail
drug response 2009-12-01 no assertion criteria provided Exercise stress response, impaired, association with germline Detail
Benign 2016-06-14 criteria provided, single submitter permanent neonatal diabetes mellitus germline unknown Detail
Benign 2014-11-26 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Transient Neonatal Diabetes, Dominant germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Hyperinsulinism, Dominant/Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Maturity onset diabetes mellitus in young germline Detail
Benign Likely benign 2017-04-28 criteria provided, multiple submitters, no conflicts Hyperinsulinemic hypoglycemia, familial, 2 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Diabetes mellitus, transient neonatal, 3 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter maturity-onset diabetes of the young type 13 germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign criteria provided, single submitter type 2 diabetes mellitus somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (&lt;5%) but sign... BeFree 24993573 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (&lt;5%) but sign... BeFree 24993573 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (&lt;5%) but sign... BeFree 24993573 Detail
0.004 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.003 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.011 obesity We compared the genotype distribution of five genetic Single Nucleotide Polymorp... BeFree 25612568 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent We have genotyped three single nucleotide polymorphisms associated with type 2 d... BeFree 14988278 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent We have genotyped three single nucleotide polymorphisms associated with type 2 d... BeFree 14988278 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent In contrast, the well-documented associations of peroxisome proliferator-activat... BeFree 15561965 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent The P12A variant in the PPARG gene and the E23K polymorphism in KCNJ11 are both ... BeFree 17994213 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent In contrast, the well-documented associations of peroxisome proliferator-activat... BeFree 15561965 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent In contrast, the well-documented associations of peroxisome proliferator-activat... BeFree 15561965 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic effica... BeFree 20054294 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic effica... BeFree 20054294 Detail
0.019 Diabetes Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.021 diabetes mellitus Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Large-scale association studies of variants in genes encoding the pancreatic bet... BeFree 12540637 Detail
<0.001 Heart failure A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes a... BeFree 20033705 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... BeFree 18758683 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 varian... BeFree 15842514 Detail
<0.001 congestive heart failure KATP channel Kir6.2 E23K variant overrepresented in human heart failure is assoc... BeFree 19685080 Detail
0.133 Neonatal diabetes mellitus Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.060 diabetes mellitus Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.060 diabetes mellitus It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subje... BeFree 15930170 Detail
0.009 Diabetes The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... BeFree 18758683 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The relevance to type 2 diabetes of the common polymorphism Glu23Lys in the pota... BeFree 12196481 Detail
0.021 diabetes mellitus The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... BeFree 18758683 Detail
0.060 diabetes mellitus Association between E23K variant in KCNJ11 gene and new-onset diabetes after liv... BeFree 24996284 Detail
0.014 hyperglycemia The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.... BeFree 12196481 Detail
0.019 Diabetes The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... BeFree 18758683 Detail
0.019 Diabetes These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may ... BeFree 17977958 Detail
0.081 prediabetes syndrome The KCNJ11 E23K variant was associated with the progression to prediabetes after... BeFree 22163043 Detail
0.010 obesity Of particular interest is the Kir6.2 E23K polymorphism, which is linked to incre... BeFree 15565284 Detail
0.060 diabetes mellitus The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) ch... BeFree 12540638 Detail
0.019 Diabetes The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) ch... BeFree 12540638 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent A case-control design comprising 884 type 2 diabetic patients and 513 control su... BeFree 19368707 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The KCNJ11 E23K variant is associated with type 2 diabetes mellitus (T2DM) in cr... BeFree 22163043 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin resp... BeFree 12540638 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-tripho... BeFree 16595597 Detail
0.018 Diabetes These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may ... BeFree 17977958 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent KCNJ11 E23K polymorphism was associated with type 2 diabetes in genetic associat... BeFree 22385882 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The aim of this study was to investigate the association of KCNJ11 E23K and ABCC... BeFree 18664331 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... BeFree 18758683 Detail
0.127 hyperglycemia The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.... BeFree 12196481 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes... BeFree 24332549 Detail
0.415 Diabetes Mellitus, Non-Insulin-Dependent A case-control design comprising 884 type 2 diabetic patients and 513 control su... BeFree 19368707 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Given the phenotypic overlap between PCOS and T2DM, our objective was to investi... BeFree 18958766 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not ... BeFree 15930170 Detail
0.060 diabetes mellitus Of particular interest is the Kir6.2 E23K polymorphism, which is linked to incre... BeFree 15565284 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E2... BeFree 17922473 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 d... BeFree 24460047 Detail
<0.001 Coronary Arteriosclerosis The E23K polymorphism in Kir6.2 gene and coronary heart disease. BeFree 16455067 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a ge... BeFree 17965318 Detail
<0.001 congestive heart failure The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the r... BeFree 24222218 Detail
<0.001 congestive heart failure A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes a... BeFree 20033705 Detail
0.009 hypoglycemia In logistic regression analysis before and after adjustment for other factors kn... BeFree 22591706 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglyc... BeFree 19214942 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent A case-control design comprising 884 type 2 diabetic patients and 513 control su... BeFree 19368707 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Relationship between E23K (an established type II diabetes-susceptibility varian... BeFree 17342155 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes... BeFree 15565284 Detail
0.295 diabetes mellitus The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) ch... BeFree 12540638 Detail
0.002 Impaired glucose tolerance The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not ... BeFree 15930170 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The findings of the present study suggest that the KCNJ11 E23K variant is associ... BeFree 25115353 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The KCNJ11 E23K gene polymorphism and type 2 diabetes mellitus in the Chinese Ha... BeFree 23054005 Detail
0.060 diabetes mellitus KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patient... BeFree 17976307 Detail
0.009 Diabetes Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.009 hypoglycemia The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglyc... BeFree 19214942 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chin... BeFree 19498446 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes a... BeFree 20033705 Detail
0.019 Diabetes Association between E23K variant in KCNJ11 gene and new-onset diabetes after liv... BeFree 24996284 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K d... BeFree 22704848 Detail
0.136 Diabetes Mellitus, Insulin-Dependent E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes. BeFree 22573428 Detail
0.060 diabetes mellitus Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... BeFree 25955821 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K d... BeFree 22704848 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin resp... BeFree 12540638 Detail
0.008 Coronary heart disease The E23K polymorphism in Kir6.2 gene and coronary heart disease. BeFree 16455067 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians... BeFree 22512215 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes... BeFree 25165692 Detail
0.060 diabetes mellitus The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... BeFree 18758683 Detail
0.060 diabetes mellitus Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic... BeFree 17965318 Detail
0.045 diabetes mellitus These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may ... BeFree 17977958 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent Common polymorphisms (KCNJ11 E23K and ABCC8 exon16-3t/c) in these genes have bee... BeFree 19498446 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 varian... BeFree 15842514 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or... BeFree 17342155 Detail
0.060 diabetes mellitus These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may ... BeFree 17977958 Detail
0.009 hypoglycemia Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-t... BeFree 22591706 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The E23K and A190A variations of the KCNJ11 gene are associated with early-onset... BeFree 25725792 Detail
0.021 diabetes mellitus Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... BeFree 25955821 Detail
0.080 Diabetes The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) ch... BeFree 12540638 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... BeFree 22209866 Detail
0.009 gestational diabetes Association of the E23K polymorphism in the KCNJ11 gene with gestational diabete... BeFree 16320083 Detail
0.019 Diabetes It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subje... BeFree 15930170 Detail
0.168 Impaired glucose tolerance We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin s... BeFree 17259403 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The aim of this study was to investigate the association of KCNJ11 E23K and ABCC... BeFree 18664331 Detail
<0.001 Heart failure KATP channel Kir6.2 E23K variant overrepresented in human heart failure is assoc... BeFree 19685080 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Given the phenotypic overlap between PCOS and T2DM, our objective was to investi... BeFree 18958766 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.009 hypoglycemia The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in pati... BeFree 16142506 Detail
0.019 Diabetes Of particular interest is the Kir6.2 E23K polymorphism, which is linked to incre... BeFree 15565284 Detail
0.136 Diabetes Mellitus, Insulin-Dependent The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in pati... BeFree 16142506 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The polymorphism E23K on KCNJ11 that is associated with NIDDM was differentially... BeFree 17727257 Detail
0.149 Neonatal diabetes mellitus Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent Large-scale association studies of variants in genes encoding the pancreatic bet... BeFree 12540637 Detail
0.019 Diabetes Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic... BeFree 17965318 Detail
0.002 Impaired glucose tolerance We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin s... BeFree 17259403 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... BeFree 22209866 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently ass... BeFree 17259403 Detail
<0.001 Ovarian Diseases In conclusion, these data (involving &gt;4600 subjects) provide no evidence that... BeFree 17342155 Detail
0.447 Diabetes Mellitus, Non-Insulin-Dependent Sib-TDT analysis showed that some gene variants were significantly associated wi... BeFree 24993573 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Sib-TDT analysis showed that some gene variants were significantly associated wi... BeFree 24993573 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Our study replicated the association of rs5219 in KCNJ11 with type 2 diabetes in... BeFree 20079163 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility ob... GWASCAT 19056611 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.005 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent We identify T2D-associated variants in an intergenic region of chromosome 11p12,... GWASCAT 17463248 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association analysis identifies loci for type 2 diabetes and triglyc... GWASCAT 17463246 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent NA CLINVAR Detail
0.019 Diabetes Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttran... BeFree 22264780 Detail
0.060 diabetes mellitus Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttran... BeFree 22264780 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.005 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.055 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.042 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.176 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.121 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.009 gestational diabetes 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HH... BeFree 22591707 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.005 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.123 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.002 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.009 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.126 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.145 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent In addition to these polymorphisms, meta-analysis confirmed the association of t... BeFree 19033397 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent In addition to these polymorphisms, meta-analysis confirmed the association of t... BeFree 19033397 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Diabetes mellitus type 2, susceptibility to ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Exercise stress response, impaired, association with ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND not specified ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Transient Neonatal Diabetes, Dominant ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Hyperinsulinism, Dominant/Recessive ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Hyperinsulinemic hypoglycemia, familial, 2 ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Diabetes mellitus, transient neonatal, 3 ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Maturity-onset diabetes of the young type 13 ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND not provided ClinVar Detail
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Type 2 diabetes mellitus ClinVar Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We compared the genotype distribution of five genetic Single Nucleotide Polymorphisms (SNPs) known t... DisGeNET Detail
We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large t... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large t... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
In contrast, the well-documented associations of peroxisome proliferator-activated receptor gamma P1... DisGeNET Detail
The P12A variant in the PPARG gene and the E23K polymorphism in KCNJ11 are both known to influence i... DisGeNET Detail
In contrast, the well-documented associations of peroxisome proliferator-activated receptor gamma P1... DisGeNET Detail
In contrast, the well-documented associations of peroxisome proliferator-activated receptor gamma P1... DisGeNET Detail
NA DisGeNET Detail
KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic efficacy of repaglinide in... DisGeNET Detail
KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic efficacy of repaglinide in... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel ... DisGeNET Detail
A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor ... DisGeNET Detail
The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... DisGeNET Detail
The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 variant, was consistently ... DisGeNET Detail
KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired ... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subjects with an immediat... DisGeNET Detail
The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... DisGeNET Detail
The relevance to type 2 diabetes of the common polymorphism Glu23Lys in the potassium inward rectifi... DisGeNET Detail
The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... DisGeNET Detail
Association between E23K variant in KCNJ11 gene and new-onset diabetes after liver transplantation. DisGeNET Detail
The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associate... DisGeNET Detail
The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... DisGeNET Detail
These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may predict diabetes inc... DisGeNET Detail
The KCNJ11 E23K variant was associated with the progression to prediabetes after a median interval o... DisGeNET Detail
Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility ... DisGeNET Detail
The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2... DisGeNET Detail
The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2... DisGeNET Detail
A case-control design comprising 884 type 2 diabetic patients and 513 control subjects living in the... DisGeNET Detail
The KCNJ11 E23K variant is associated with type 2 diabetes mellitus (T2DM) in cross-sectional studie... DisGeNET Detail
The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased r... DisGeNET Detail
The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-triphosphate-sensitive pot... DisGeNET Detail
These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may predict diabetes inc... DisGeNET Detail
KCNJ11 E23K polymorphism was associated with type 2 diabetes in genetic association studies. DisGeNET Detail
The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with t... DisGeNET Detail
The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... DisGeNET Detail
The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associate... DisGeNET Detail
E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian ... DisGeNET Detail
A case-control design comprising 884 type 2 diabetic patients and 513 control subjects living in the... DisGeNET Detail
Given the phenotypic overlap between PCOS and T2DM, our objective was to investigate whether the TCF... DisGeNET Detail
The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glu... DisGeNET Detail
Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility ... DisGeNET Detail
Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with... DisGeNET Detail
Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 diabetes in an Irania... DisGeNET Detail
The E23K polymorphism in Kir6.2 gene and coronary heart disease. DisGeNET Detail
Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese popul... DisGeNET Detail
The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the risk of negative outc... DisGeNET Detail
A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor ... DisGeNET Detail
In logistic regression analysis before and after adjustment for other factors known to affect this c... DisGeNET Detail
The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients wit... DisGeNET Detail
A case-control design comprising 884 type 2 diabetic patients and 513 control subjects living in the... DisGeNET Detail
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), po... DisGeNET Detail
Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. DisGeNET Detail
The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2... DisGeNET Detail
The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glu... DisGeNET Detail
The findings of the present study suggest that the KCNJ11 E23K variant is associated with a greater ... DisGeNET Detail
The KCNJ11 E23K gene polymorphism and type 2 diabetes mellitus in the Chinese Han population: a meta... DisGeNET Detail
KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patients. DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients wit... DisGeNET Detail
The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian p... DisGeNET Detail
A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor ... DisGeNET Detail
Association between E23K variant in KCNJ11 gene and new-onset diabetes after liver transplantation. DisGeNET Detail
ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin sec... DisGeNET Detail
E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes. DisGeNET Detail
Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... DisGeNET Detail
ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin sec... DisGeNET Detail
The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased r... DisGeNET Detail
The E23K polymorphism in Kir6.2 gene and coronary heart disease. DisGeNET Detail
Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians. DisGeNET Detail
Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian populat... DisGeNET Detail
The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... DisGeNET Detail
Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic risk factor for dia... DisGeNET Detail
These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may predict diabetes inc... DisGeNET Detail
Common polymorphisms (KCNJ11 E23K and ABCC8 exon16-3t/c) in these genes have been reported to be ass... DisGeNET Detail
The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 variant, was consistently ... DisGeNET Detail
Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or ABCC8 A1369S in LD&... DisGeNET Detail
These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may predict diabetes inc... DisGeNET Detail
Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-treated type 2 diabet... DisGeNET Detail
The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and... DisGeNET Detail
Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... DisGeNET Detail
The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2... DisGeNET Detail
The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... DisGeNET Detail
Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus. DisGeNET Detail
It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subjects with an immediat... DisGeNET Detail
We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individu... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with t... DisGeNET Detail
KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired ... DisGeNET Detail
Given the phenotypic overlap between PCOS and T2DM, our objective was to investigate whether the TCF... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 dia... DisGeNET Detail
Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility ... DisGeNET Detail
The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 dia... DisGeNET Detail
The polymorphism E23K on KCNJ11 that is associated with NIDDM was differentially distributed in the ... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel ... DisGeNET Detail
Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic risk factor for dia... DisGeNET Detail
We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individu... DisGeNET Detail
The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... DisGeNET Detail
The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 ... DisGeNET Detail
In conclusion, these data (involving &gt;4600 subjects) provide no evidence that common variants of ... DisGeNET Detail
Sib-TDT analysis showed that some gene variants were significantly associated with T2D risk but didn... DisGeNET Detail
Sib-TDT analysis showed that some gene variants were significantly associated with T2D risk but didn... DisGeNET Detail
Our study replicated the association of rs5219 in KCNJ11 with type 2 diabetes in Chinese Han populat... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wid... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
We identify T2D-associated variants in an intergenic region of chromosome 11p12, contribute to the i... DisGeNET Detail
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. DisGeNET Detail
NA DisGeNET Detail
Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in p... DisGeNET Detail
Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in p... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
In addition to these polymorphisms, meta-analysis confirmed the association of type 2 diabetes susce... DisGeNET Detail
In addition to these polymorphisms, meta-analysis confirmed the association of type 2 diabetes susce... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5219 dbSNP
Genome
hg38
Position
chr11:17,388,025-17,388,025
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
207.20
Standard deviation of sample read depth (HGVD)
95.59
Number of reference allele (HGVD)
874
Number of alternative allele (HGVD)
1544
Allele Frequency (HGVD)
0.6385442514474773
Gene Symbol (HGVD)
KCNJ11
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs5219
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6376
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10685
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8600
East Asian Allele Counts (ExAC)
5505
East Asian Heterozygous Counts (ExAC)
1985
East Asian Homozygous Counts (ExAC)
1760
East Asian Allele Frequency (ExAC)
0.6401162790697674
Chromosome Counts in All Race (ExAC)
121112
Allele Counts in All Race (ExAC)
78371
Heterozygous Counts in All Race (ExAC)
26577
Homozygous Counts in All Race (ExAC)
25897
Allele Frequency in All Race (ExAC)
0.6470952506770592
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