rs193922591
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922591(C;T) |
| Make rs193922591(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 121001150 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922591 |
| dbSNP (classic) | rs193922591 |
| ClinGen | rs193922591 |
| ebi | rs193922591 |
| HLI | rs193922591 |
| Exac | rs193922591 |
| Gnomad | rs193922591 |
| Varsome | rs193922591 |
| LitVar | rs193922591 |
| Map | rs193922591 |
| PheGenI | rs193922591 |
| Biobank | rs193922591 |
| 1000 genomes | rs193922591 |
| hgdp | rs193922591 |
| ensembl | rs193922591 |
| geneview | rs193922591 |
| scholar | rs193922591 |
| rs193922591 | |
| pharmgkb | rs193922591 |
| gwascentral | rs193922591 |
| openSNP | rs193922591 |
| 23andMe | rs193922591 |
| SNPshot | rs193922591 |
| SNPdbe | rs193922591 |
| MSV3d | rs193922591 |
| GWAS Ctlg | rs193922591 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922591(G;G) rs193922591(T;T) |
| Alt | rs193922591(G;G) rs193922591(T;T) |
| Reference | Rs193922591(C;C) |
| Significance | Untested |
| 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.121438953C>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030494.1, RCV000121192.1, |
[PMID 10588527] Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.
