rs137853242
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | associated with MODY3; maturity onset of diabetes in the young (type 3) |
| (G;G) | 0 | common in clinvar |
| Make rs137853242(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120999607 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853242 |
| dbSNP (classic) | rs137853242 |
| ClinGen | rs137853242 |
| ebi | rs137853242 |
| HLI | rs137853242 |
| Exac | rs137853242 |
| Gnomad | rs137853242 |
| Varsome | rs137853242 |
| LitVar | rs137853242 |
| Map | rs137853242 |
| PheGenI | rs137853242 |
| Biobank | rs137853242 |
| 1000 genomes | rs137853242 |
| hgdp | rs137853242 |
| ensembl | rs137853242 |
| geneview | rs137853242 |
| scholar | rs137853242 |
| rs137853242 | |
| pharmgkb | rs137853242 |
| gwascentral | rs137853242 |
| openSNP | rs137853242 |
| 23andMe | rs137853242 |
| SNPshot | rs137853242 |
| SNPdbe | rs137853242 |
| MSV3d | rs137853242 |
| GWAS Ctlg | rs137853242 |
| Max Magnitude | 2 |
| ClinVar | |
|---|---|
| Risk | rs137853242(A;A) |
| Alt | rs137853242(A;A) |
| Reference | Rs137853242(G;G) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young not specified |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Maturity-onset diabetes of the young, type 3 not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121437410G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016078.28, RCV000455019.1, |
[PMID 91120] Supine-lateral approach versus sitting operation--statistical analysis of brainstem cranial nerve and cerebellar function in 165 acoustic neurinomas.
[PMID 10333057] Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.
[PMID 11942313] To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123.
[PMID 12355088] Bi-allelic inactivation of TCF1 in hepatic adenomas.
[PMID 12359128] The role of transcription factors in maturity-onset diabetes of the young.
[PMID 16917892] Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
