rs199946797
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199946797(C;T) |
| Make rs199946797(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 4 |
| Position | 6301467 |
| Gene | WFS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199946797 |
| dbSNP (classic) | rs199946797 |
| ClinGen | rs199946797 |
| ebi | rs199946797 |
| HLI | rs199946797 |
| Exac | rs199946797 |
| Gnomad | rs199946797 |
| Varsome | rs199946797 |
| LitVar | rs199946797 |
| Map | rs199946797 |
| PheGenI | rs199946797 |
| Biobank | rs199946797 |
| 1000 genomes | rs199946797 |
| hgdp | rs199946797 |
| ensembl | rs199946797 |
| geneview | rs199946797 |
| scholar | rs199946797 |
| rs199946797 | |
| pharmgkb | rs199946797 |
| gwascentral | rs199946797 |
| openSNP | rs199946797 |
| 23andMe | rs199946797 |
| SNPshot | rs199946797 |
| SNPdbe | rs199946797 |
| MSV3d | rs199946797 |
| GWAS Ctlg | rs199946797 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199946797(A;A) rs199946797(T;T) |
| Alt | rs199946797(A;A) rs199946797(T;T) |
| Reference | Rs199946797(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Diabetes mellitus AND insipidus with optic atrophy AND deafness not provided Monogenic diabetes |
| Variation | info |
| Gene | WFS1 |
| CLNDBN | Diabetes mellitus AND insipidus with optic atrophy AND deafness not provided Monogenic diabetes |
| Reversed | 0 |
| HGVS | NC_000004.11:g.6303194C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000180290.2, RCV000255189.1, RCV000445459.1, |
