chr11:17392498:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,414,045-17,498,419 |
| hg38 | chr11:17,392,498-17,476,872 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | cerebral infarction | NA | BeFree | Detail | |
| 0.120 | Colorectal Neoplasms | NA | CTD_human | Detail | |
| <0.001 | Corneal Diseases | NA | BeFree | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| 0.009 | Diabetes | NA | BeFree | Detail | |
| 0.123 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,CTD_human,GAD | Detail | |
| 0.315 | Diabetes Mellitus, Non-Insulin-Dependent | Of note, the first two T2D-associated loci (PPARG and KCNJ11/ABCC8) encode known... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 25368101 | Detail |
| 0.315 | Diabetes Mellitus, Non-Insulin-Dependent | Our calculations identified causal genetic variation within the ABCC8/KCNJ11 reg... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 25955821 | Detail |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| 0.002 | hyperglycemia | NA | BeFree | Detail | |
| 0.014 | hyperinsulinism | We suggest that the hyperinsulinaemia that is observed in TPP may be linked to t... | BeFree,GAD,LHGDN | 25143473 | Detail |
| 0.095 | hypoglycemia | Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyper... | BeFree,GAD,LHGDN,RGD | 25117148 | Detail |
| 0.095 | hypoglycemia | Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due t... | BeFree,GAD,LHGDN,RGD | 25518065 | Detail |
| <0.001 | Neonatal disorder | NA | BeFree | Detail | |
| 0.002 | Insulin resistance | NA | GAD | Detail | |
| <0.001 | insulinoma | NA | BeFree | Detail | |
| <0.001 | keratitis | NA | BeFree | Detail | |
| <0.001 | Ketosis | We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp... | BeFree | 24941889 | Detail |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.001 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.003 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
| 0.484 | DIABETES MELLITUS, PERMANENT NEONATAL | A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes perma... | BeFree | 17317760 | Detail |
| <0.001 | Mucocutaneous Lymph Node Syndrome | NA | BeFree | Detail | |
| <0.001 | myositis | NA | BeFree | Detail | |
| 0.080 | Necrosis | NA | RGD | Detail | |
| 0.004 | Nesidioblastosis | NA | BeFree | Detail | |
| 0.001 | obesity | NA | BeFree | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| <0.001 | papilloma | NA | BeFree | Detail | |
| <0.001 | peritonitis | NA | BeFree | Detail | |
| 0.081 | Seizures | NA | BeFree,RGD | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.080 | Subarachnoid Hemorrhage | NA | BeFree,RGD | Detail | |
| <0.001 | vasculitis | NA | BeFree | Detail | |
| <0.001 | Vitamin A Deficiency | NA | BeFree | Detail | |
| 0.003 | gestational diabetes | NA | BeFree,GAD | Detail | |
| <0.001 | Atrophic condition of skin | NA | BeFree | Detail | |
| 0.133 | Neonatal diabetes mellitus | Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organ... | BeFree,CLINVAR | 23783767 | Detail |
| 0.133 | Neonatal diabetes mellitus | We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp... | BeFree,CLINVAR | 24941889 | Detail |
| 0.133 | Neonatal diabetes mellitus | In transient neonatal diabetes (TNDM) patients, the genetic cause included chrom... | BeFree,CLINVAR | 25755231 | Detail |
| <0.001 | Glomerulosclerosis (disorder) | NA | BeFree | Detail | |
| <0.001 | Diabetes, Autoimmune | Activating mutations in the ABCC8 gene encoding the KATP channel subunit SUR1 ca... | BeFree | 24941889 | Detail |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| 0.080 | Parkinsonian Disorders | NA | RGD | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | Dermatomyositis, Childhood Type | NA | BeFree | Detail | |
| <0.001 | Thyrotoxic periodic paralysis | We suggest that the hyperinsulinaemia that is observed in TPP may be linked to t... | BeFree | 25143473 | Detail |
| 0.002 | Impaired glucose tolerance | NA | BeFree | Detail | |
| <0.001 | Fasting Hypoglycemia | NA | BeFree | Detail | |
| <0.001 | Congenital hemihypertrophy | NA | BeFree | Detail | |
| <0.001 | Restenosis | NA | BeFree | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| <0.001 | Tumor necrosis | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| 0.001 | transient neonatal diabetes mellitus | NA | BeFree | Detail | |
| 0.080 | Endotoxemia | NA | RGD | Detail | |
| <0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| <0.001 | Wolcott-Rallison syndrome | A 3 year old patient with NDM diagnosed at 3 months of age, who previously teste... | BeFree | 25306193 | Detail |
| <0.001 | Pneumonia due to Klebsiella pneumoniae | NA | BeFree | Detail | |
| <0.001 | Sleep Apnea, Obstructive | NA | BeFree | Detail | |
| 0.021 | diabetes mellitus | Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... | BeFree | 17259403 | 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 |
| 0.133 | Neonatal diabetes mellitus | Although rare monogenic activating mutations in these genes cause overt neonatal... | BeFree | 22187380 | Detail |
| 0.009 | Diabetes | The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... | BeFree | 18758683 | Detail |
| 0.021 | diabetes mellitus | The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... | BeFree | 18758683 | 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 |
| 0.009 | Diabetes | Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... | BeFree | 17259403 | 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 |
| 0.315 | 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 |
| 0.021 | 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 | The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... | BeFree | 22209866 | Detail |
| 0.315 | Diabetes Mellitus, Non-Insulin-Dependent | Large-scale association studies of variants in genes encoding the pancreatic bet... | BeFree | 12540637 | 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 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Cardiac defects | NA | BeFree | Detail | |
| <0.001 | Pseudomonas aeruginosa infection | NA | BeFree | Detail | |
| <0.001 | Bacterial keratitis | NA | BeFree | Detail | |
| <0.001 | Cerebral Ischemia | NA | BeFree | Detail | |
| <0.001 | Vascular inflammations | NA | BeFree | Detail | |
| <0.001 | Spondylarthropathies | NA | BeFree | Detail | |
| <0.001 | Abdominal sepsis | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| 0.080 | brain edema | NA | RGD | Detail | |
| <0.001 | Severe Sepsis | NA | BeFree | Detail | |
| <0.001 | Organic acidemias | Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organ... | BeFree | 23783767 | Detail |
| 0.001 | Diabetes mellitus, transient neonatal, 1 | In transient neonatal diabetes (TNDM) patients, the genetic cause included chrom... | BeFree | 25755231 | Detail |
| <0.001 | Hyperinsulinemic hypoglycemia, familial, 6 | NA | BeFree | Detail | |
| 0.001 | Developmental Delay, Epilepsy, and Neonatal Diabetes | NA | BeFree | Detail | |
| <0.001 | Leukemia, B-Cell | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Promyelocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Usher syndrome, type 1C | NA | BeFree | Detail | |
| <0.001 | Juvenile dermatomyositis | NA | BeFree | Detail | |
| 0.004 | Hyperinsulinemic hypoglycemia, familial, 2 | NA | BeFree | Detail | |
| <0.001 | Plaque, Amyloid | NA | BeFree | Detail | |
| <0.001 | Fanconi-Bickel syndrome | NA | BeFree | Detail | |
| 0.133 | Congenital Hyperinsulinism | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Beckwith-Wiedemann syndrome | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Of note, the first two T2D-associated loci (PPARG and KCNJ11/ABCC8) encode known targets of antidiab... | DisGeNET | Detail |
| Our calculations identified causal genetic variation within the ABCC8/KCNJ11 region for T2DM with an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We suggest that the hyperinsulinaemia that is observed in TPP may be linked to the ATP-sensitive K(+... | DisGeNET | Detail |
| Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglyc... | DisGeNET | Detail |
| Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heteroz... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp/p.Ile93Thr) causing... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | DisGeNET | Detail |
| A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabet... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia. | DisGeNET | Detail |
| We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp/p.Ile93Thr) causing... | DisGeNET | Detail |
| In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormali... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Activating mutations in the ABCC8 gene encoding the KATP channel subunit SUR1 cause β-cell dysfuncti... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We suggest that the hyperinsulinaemia that is observed in TPP may be linked to the ATP-sensitive K(+... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A 3 year old patient with NDM diagnosed at 3 months of age, who previously tested negative for INS, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... | DisGeNET | Detail |
| The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... | DisGeNET | Detail |
| Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... | DisGeNET | Detail |
| The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... | DisGeNET | Detail |
| The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... | DisGeNET | Detail |
| The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with t... | DisGeNET | Detail |
| Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... | DisGeNET | Detail |
| ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin sec... | 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 |
| Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... | DisGeNET | Detail |
| The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... | DisGeNET | Detail |
| Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel ... | DisGeNET | Detail |
| The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia. | DisGeNET | Detail |
| In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormali... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs3818569 dbSNP
- Genome
- hg38
- Position
- chr11:17,392,498-17,476,872
- Variant Type
- snv
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