rs140491072
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs140491072(A;G) |
| Make rs140491072(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120996271 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140491072 |
| dbSNP (classic) | rs140491072 |
| ClinGen | rs140491072 |
| ebi | rs140491072 |
| HLI | rs140491072 |
| Exac | rs140491072 |
| Gnomad | rs140491072 |
| Varsome | rs140491072 |
| LitVar | rs140491072 |
| Map | rs140491072 |
| PheGenI | rs140491072 |
| Biobank | rs140491072 |
| 1000 genomes | rs140491072 |
| hgdp | rs140491072 |
| ensembl | rs140491072 |
| geneview | rs140491072 |
| scholar | rs140491072 |
| rs140491072 | |
| pharmgkb | rs140491072 |
| gwascentral | rs140491072 |
| openSNP | rs140491072 |
| 23andMe | rs140491072 |
| SNPshot | rs140491072 |
| SNPdbe | rs140491072 |
| MSV3d | rs140491072 |
| GWAS Ctlg | rs140491072 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140491072(G;G) |
| Alt | rs140491072(G;G) |
| Reference | Rs140491072(A;A) |
| Significance | Untested |
| Disease | Maturity-onset diabetes of the young not specified Monogenic diabetes |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Maturity-onset diabetes of the young, type 3 not specified Monogenic diabetes |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121434074A>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030516.1, RCV000121196.1, RCV000445387.1, |
[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.
