rs398123066
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123066(A;G) |
Make rs398123066(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 6301180 |
Gene | WFS1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123066 |
dbSNP (classic) | rs398123066 |
ClinGen | rs398123066 |
ebi | rs398123066 |
HLI | rs398123066 |
Exac | rs398123066 |
Gnomad | rs398123066 |
Varsome | rs398123066 |
LitVar | rs398123066 |
Map | rs398123066 |
PheGenI | rs398123066 |
Biobank | rs398123066 |
1000 genomes | rs398123066 |
hgdp | rs398123066 |
ensembl | rs398123066 |
geneview | rs398123066 |
scholar | rs398123066 |
rs398123066 | |
pharmgkb | rs398123066 |
gwascentral | rs398123066 |
openSNP | rs398123066 |
23andMe | rs398123066 |
SNPshot | rs398123066 |
SNPdbe | rs398123066 |
MSV3d | rs398123066 |
GWAS Ctlg | rs398123066 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123066(G;G) |
Alt | rs398123066(G;G) |
Reference | Rs398123066(A;A) |
Significance | Pathogenic |
Disease | Cataract 41 |
Variation | info |
Gene | WFS1 |
CLNDBN | Cataract 41 |
Reversed | 0 |
HGVS | NC_000004.11:g.6302907A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000077875.4, |