chr2:27741237:T>C Detail (hg19) (GCKR)

Information

Genome

Assembly Position
hg19 chr2:27,741,237-27,741,237
hg38 chr2:27,518,370-27,518,370 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001486.3:c.1423-418T>C
Ensemble ENST00000264717.7:c.1423-418T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.434
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600842 OMIM
HGNC 4196 HGNC
Ensembl ENSG00000084734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6252090 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 gestational diabetes Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... BeFree 23761423 Detail
<0.001 gestational diabetes Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... BeFree 23761423 Detail
0.014 gestational diabetes Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... BeFree 23761423 Detail
<0.001 gestational diabetes Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... BeFree 23761423 Detail
<0.001 gestational diabetes Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... BeFree 23761423 Detail
<0.001 gestational diabetes Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... BeFree 23761423 Detail
<0.001 Arthritis, Gouty Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... BeFree 26290326 Detail
<0.001 Arthritis, Gouty Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... BeFree 26290326 Detail
<0.001 Arthritis, Gouty Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... BeFree 26290326 Detail
<0.001 obesity By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent Recently, the association of the natural variants rs1260326 and rs780094 of the ... BeFree 21511510 Detail
0.026 diabetes mellitus The intronic single-nucleotide polymorphism (SNP) rs780094 (intron 16) and the m... BeFree 21525158 Detail
0.013 Diabetes The intronic single-nucleotide polymorphism (SNP) rs780094 (intron 16) and the m... BeFree 21525158 Detail
<0.001 Dyslipidemias The GCKR rs780094 and GCK rs1799884 polymorphisms have been reported to be assoc... BeFree 19241058 Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... BeFree 21411509 Detail
0.012 Kidney Diseases In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... BeFree 21411509 Detail
0.009 Steatohepatitis We used data from the National Health and Nutrition Examination Survey III to va... BeFree 23416328 Detail
0.163 Fatty Liver We used data from the National Health and Nutrition Examination Survey III to va... BeFree 23416328 Detail
0.129 Metabolic syndrome X Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lip... GWASCAT 22399527 Detail
0.007 Dyslipidemias Consistent with observations in white Europeans, the GCKR rs780094 polymorphism ... BeFree 19241058 Detail
0.005 atherosclerosis [Our findings indicate rs780094 has independent associations with multiple metab... GAD 20661421 Detail
0.009 diabetes mellitus [Association of rs780094 in GCKR with metabolic traits and incident diabetes and... GAD 20661421 Detail
0.003 diabetes mellitus Previous findings replicated among white participants in multivariable adjusted ... BeFree 20661421 Detail
0.007 Dyslipidemias The minor GCKR A-allele of rs780094 is associated with an increased level of fas... BeFree 18008060 Detail
0.002 obesity The GCKR rs780094 was also associated with obesity and BMI, independently of its... BeFree 19241058 Detail
0.129 Metabolic syndrome X [Our findings suggest that genes from lipid metabolism pathways have the key rol... GAD 22399527 Detail
<0.001 Malignant neoplasm of pancreas In a multivariate-adjusted model, a significant association was observed only fo... BeFree 22015968 Detail
0.009 diabetes mellitus In a multivariate-adjusted model, a significant association was observed only fo... BeFree 22015968 Detail
<0.001 pancreatic carcinoma In a multivariate-adjusted model, a significant association was observed only fo... BeFree 22015968 Detail
0.127 Cardiovascular Diseases [Association of rs780094 in GCKR with metabolic traits and incident diabetes and... GAD 20661421 Detail
0.003 Diabetes Previous findings replicated among white participants in multivariable adjusted ... BeFree 20661421 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent Although studies have suggested that rs780094, a common variant in the glucokina... BeFree 25167786 Detail
0.002 Non-alcoholic Fatty Liver Disease Although studies have suggested that rs780094, a common variant in the glucokina... BeFree 25167786 Detail
<0.001 Non-alcoholic Fatty Liver Disease Overall, the pooled result indicated that the GCKR rs780094 was significantly as... BeFree 25167786 Detail
0.005 Insulin resistance [New genetic loci implicated in fasting glucose homeostasis and their impact on ... GAD 20081858 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent [Association of GCKR rs780094, alone or in combination with GCK rs1799884, with ... GAD 19241058 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent Our meta-analyses demonstrated that GCKR rs780094 variant confers high cross-eth... BeFree 23840762 Detail
0.415 Diabetes Mellitus, Non-Insulin-Dependent Our meta-analyses demonstrated that GCKR rs780094 variant confers high cross-eth... BeFree 23840762 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabe... BeFree 20574426 Detail
0.002 Serum uric acid observed [Meta-analysis of 28,141 individuals identifies common variants within five new ... GAD 19503597 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent Consistent with observations in white Europeans, the GCKR rs780094 polymorphism ... BeFree 19241058 Detail
0.415 Diabetes Mellitus, Non-Insulin-Dependent Although studies have suggested that rs780094, a common variant in the glucokina... BeFree 25167786 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent [The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diab... GAD 20574426 Detail
<0.001 Non-alcoholic Fatty Liver Disease Common variant in the glucokinase regulatory gene rs780094 and risk of nonalcoho... BeFree 25167786 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent The GCKR rs780094 polymorphism is associated with elevated fasting serum triacyl... BeFree 18008060 Detail
0.002 Diabetes In a multivariate-adjusted model, a significant association was observed only fo... BeFree 22015968 Detail
0.014 gestational diabetes Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
<0.001 Cardiovascular Diseases GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... BeFree 23185617 Detail
<0.001 Cardiovascular Diseases GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... BeFree 23185617 Detail
0.127 Cardiovascular Diseases GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... BeFree 23185617 Detail
<0.001 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
0.009 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
0.002 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
Annotation

Annotations

DescrptionSourceLinks
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... DisGeNET Detail
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... DisGeNET Detail
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... DisGeNET Detail
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... DisGeNET Detail
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... DisGeNET Detail
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... DisGeNET Detail
Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... DisGeNET Detail
Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... DisGeNET Detail
Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
Recently, the association of the natural variants rs1260326 and rs780094 of the glucokinase regulato... DisGeNET Detail
The intronic single-nucleotide polymorphism (SNP) rs780094 (intron 16) and the missense SNP rs126032... DisGeNET Detail
The intronic single-nucleotide polymorphism (SNP) rs780094 (intron 16) and the missense SNP rs126032... DisGeNET Detail
The GCKR rs780094 and GCK rs1799884 polymorphisms have been reported to be associated with dyslipida... DisGeNET Detail
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... DisGeNET Detail
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... DisGeNET Detail
We used data from the National Health and Nutrition Examination Survey III to validate the associati... DisGeNET Detail
We used data from the National Health and Nutrition Examination Survey III to validate the associati... DisGeNET Detail
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution... DisGeNET Detail
Consistent with observations in white Europeans, the GCKR rs780094 polymorphism contributes to the r... DisGeNET Detail
[Our findings indicate rs780094 has independent associations with multiple metabolic traits as well ... DisGeNET Detail
[Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular dise... DisGeNET Detail
Previous findings replicated among white participants in multivariable adjusted models: the T-allele... DisGeNET Detail
The minor GCKR A-allele of rs780094 is associated with an increased level of fasting serum triacylgl... DisGeNET Detail
The GCKR rs780094 was also associated with obesity and BMI, independently of its association with ty... DisGeNET Detail
[Our findings suggest that genes from lipid metabolism pathways have the key role in the genetic bac... DisGeNET Detail
In a multivariate-adjusted model, a significant association was observed only for rs780094 in the gl... DisGeNET Detail
In a multivariate-adjusted model, a significant association was observed only for rs780094 in the gl... DisGeNET Detail
In a multivariate-adjusted model, a significant association was observed only for rs780094 in the gl... DisGeNET Detail
[Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular dise... DisGeNET Detail
Previous findings replicated among white participants in multivariable adjusted models: the T-allele... DisGeNET Detail
Although studies have suggested that rs780094, a common variant in the glucokinase regulatory (GCKR)... DisGeNET Detail
Although studies have suggested that rs780094, a common variant in the glucokinase regulatory (GCKR)... DisGeNET Detail
Overall, the pooled result indicated that the GCKR rs780094 was significantly associated with increa... DisGeNET Detail
[New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk... DisGeNET Detail
[Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and ... DisGeNET Detail
Our meta-analyses demonstrated that GCKR rs780094 variant confers high cross-ethnicity risk for the ... DisGeNET Detail
Our meta-analyses demonstrated that GCKR rs780094 variant confers high cross-ethnicity risk for the ... DisGeNET Detail
The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting... DisGeNET Detail
[Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence ... DisGeNET Detail
Consistent with observations in white Europeans, the GCKR rs780094 polymorphism contributes to the r... DisGeNET Detail
Although studies have suggested that rs780094, a common variant in the glucokinase regulatory (GCKR)... DisGeNET Detail
[The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fastin... DisGeNET Detail
Common variant in the glucokinase regulatory gene rs780094 and risk of nonalcoholic fatty liver dise... DisGeNET Detail
The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fa... DisGeNET Detail
In a multivariate-adjusted model, a significant association was observed only for rs780094 in the gl... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... DisGeNET Detail
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... DisGeNET Detail
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs780094 dbSNP
Genome
hg19
Position
chr2:27,741,237-27,741,237
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs780094
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4342
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7278
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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