rs137853239
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3.6 | Mature onset diabetes of the young (type 3) |
| Make rs137853239(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120999606 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853239 |
| dbSNP (classic) | rs137853239 |
| ClinGen | rs137853239 |
| ebi | rs137853239 |
| HLI | rs137853239 |
| Exac | rs137853239 |
| Gnomad | rs137853239 |
| Varsome | rs137853239 |
| LitVar | rs137853239 |
| Map | rs137853239 |
| PheGenI | rs137853239 |
| Biobank | rs137853239 |
| 1000 genomes | rs137853239 |
| hgdp | rs137853239 |
| ensembl | rs137853239 |
| geneview | rs137853239 |
| scholar | rs137853239 |
| rs137853239 | |
| pharmgkb | rs137853239 |
| gwascentral | rs137853239 |
| openSNP | rs137853239 |
| 23andMe | rs137853239 |
| SNPshot | rs137853239 |
| SNPdbe | rs137853239 |
| MSV3d | rs137853239 |
| GWAS Ctlg | rs137853239 |
| Max Magnitude | 3.6 |
| ClinVar | |
|---|---|
| Risk | rs137853239(G;G) |
| Alt | rs137853239(G;G) |
| Reference | Rs137853239(C;C) |
| Significance | Pathogenic |
| Disease | Diabetes mellitus Maturity-onset diabetes of the young |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Diabetes mellitus, insulin-dependent, 20 Maturity-onset diabetes of the young, type 3 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121437409C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016069.22, RCV000030492.1, |
[PMID 9313763] Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.
[PMID 10333057] Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.
[PMID 15016234] Molecular and biochemical analysis of the MODY syndromes.
[PMID 21236713] GCKR mutations in Japanese families with clustered type 2 diabetes.
