rs1169305
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 2 | associated with MODY3; maturity onset of diabetes in the young (type 3) |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120999579 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1169305 |
| dbSNP (classic) | rs1169305 |
| ClinGen | rs1169305 |
| ebi | rs1169305 |
| HLI | rs1169305 |
| Exac | rs1169305 |
| Gnomad | rs1169305 |
| Varsome | rs1169305 |
| LitVar | rs1169305 |
| Map | rs1169305 |
| PheGenI | rs1169305 |
| Biobank | rs1169305 |
| 1000 genomes | rs1169305 |
| hgdp | rs1169305 |
| ensembl | rs1169305 |
| geneview | rs1169305 |
| scholar | rs1169305 |
| rs1169305 | |
| pharmgkb | rs1169305 |
| gwascentral | rs1169305 |
| openSNP | rs1169305 |
| 23andMe | rs1169305 |
| SNPshot | rs1169305 |
| SNPdbe | rs1169305 |
| MSV3d | rs1169305 |
| GWAS Ctlg | rs1169305 |
| GMAF | 0.009183 |
| Max Magnitude | 2 |
now considered benign in ClinVar
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs1169305(C;C) |
| Alt | Rs1169305(C;C) |
| Reference | Rs1169305(T;T) |
| Significance | Non-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 | 1 |
| HGVS | NC_000012.11:g.121437382A\x3d; NC_000012.11:g.121437382A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016077.25, RCV000438436.1, RCV000030490.2, RCV000121200.1, |
