rs193922587
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3.6 | Mature onset diabetes of the young (type 3) |
| Make rs193922587(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120999522 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922587 |
| dbSNP (classic) | rs193922587 |
| ClinGen | rs193922587 |
| ebi | rs193922587 |
| HLI | rs193922587 |
| Exac | rs193922587 |
| Gnomad | rs193922587 |
| Varsome | rs193922587 |
| LitVar | rs193922587 |
| Map | rs193922587 |
| PheGenI | rs193922587 |
| Biobank | rs193922587 |
| 1000 genomes | rs193922587 |
| hgdp | rs193922587 |
| ensembl | rs193922587 |
| geneview | rs193922587 |
| scholar | rs193922587 |
| rs193922587 | |
| pharmgkb | rs193922587 |
| gwascentral | rs193922587 |
| openSNP | rs193922587 |
| 23andMe | rs193922587 |
| SNPshot | rs193922587 |
| SNPdbe | rs193922587 |
| MSV3d | rs193922587 |
| GWAS Ctlg | rs193922587 |
| Max Magnitude | 3.6 |
| ClinVar | |
|---|---|
| Risk | rs193922587(T;T) |
| Alt | rs193922587(T;T) |
| Reference | Rs193922587(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Maturity-onset diabetes of the young |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Maturity-onset diabetes of the young, type 3 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121437325C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030488.1, |
[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.
