rs137853245
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3.6 | Maturity onset of diabetes of the young (type 3) |
| (C;C) | 0 | common in clinvar |
| (C;G) | 3.6 | Mature onset diabetes of the young (type 3) |
| Make rs137853245(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120994277 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853245 |
| dbSNP (classic) | rs137853245 |
| ClinGen | rs137853245 |
| ebi | rs137853245 |
| HLI | rs137853245 |
| Exac | rs137853245 |
| Gnomad | rs137853245 |
| Varsome | rs137853245 |
| LitVar | rs137853245 |
| Map | rs137853245 |
| PheGenI | rs137853245 |
| Biobank | rs137853245 |
| 1000 genomes | rs137853245 |
| hgdp | rs137853245 |
| ensembl | rs137853245 |
| geneview | rs137853245 |
| scholar | rs137853245 |
| rs137853245 | |
| pharmgkb | rs137853245 |
| gwascentral | rs137853245 |
| openSNP | rs137853245 |
| 23andMe | rs137853245 |
| SNPshot | rs137853245 |
| SNPdbe | rs137853245 |
| MSV3d | rs137853245 |
| GWAS Ctlg | rs137853245 |
| Max Magnitude | 3.6 |
| ClinVar | |
|---|---|
| Risk | rs137853245(A;A) rs137853245(G;G) |
| Alt | rs137853245(A;A) rs137853245(G;G) |
| Reference | Rs137853245(C;C) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young not provided |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Maturity-onset diabetes of the young, type 3 not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121432080C>A; NC_000012.11:g.121432080C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016083.22, RCV000030513.1, RCV000441328.1, |
[PMID 18003757] The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.
