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, |