rs398122947
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122947(A;A) |
Make rs398122947(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 43170619 |
Gene | CRYAA, LOC107987300 |
is a | snp |
is | mentioned by |
dbSNP | rs398122947 |
dbSNP (classic) | rs398122947 |
ClinGen | rs398122947 |
ebi | rs398122947 |
HLI | rs398122947 |
Exac | rs398122947 |
Gnomad | rs398122947 |
Varsome | rs398122947 |
LitVar | rs398122947 |
Map | rs398122947 |
PheGenI | rs398122947 |
Biobank | rs398122947 |
1000 genomes | rs398122947 |
hgdp | rs398122947 |
ensembl | rs398122947 |
geneview | rs398122947 |
scholar | rs398122947 |
rs398122947 | |
pharmgkb | rs398122947 |
gwascentral | rs398122947 |
openSNP | rs398122947 |
23andMe | rs398122947 |
SNPshot | rs398122947 |
SNPdbe | rs398122947 |
MSV3d | rs398122947 |
GWAS Ctlg | rs398122947 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122947(A;A) |
Alt | rs398122947(A;A) |
Reference | Rs398122947(G;G) |
Significance | Pathogenic |
Disease | Cataract |
Variation | info |
Gene | LOC102724652 CRYAA |
CLNDBN | Cataract, autosomal dominant |
Reversed | 0 |
HGVS | NC_000021.8:g.44590729G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000059325.27, |