Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122947(A;A)
Make rs398122947(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43170619
GeneCRYAA
is asnp
is mentioned by
dbSNPrs398122947
ebirs398122947
HLIrs398122947
Exacrs398122947
Varsomers398122947
Maprs398122947
PheGenIrs398122947
hapmaprs398122947
1000 genomesrs398122947
hgdprs398122947
ensemblrs398122947
gopubmedrs398122947
geneviewrs398122947
scholarrs398122947
googlers398122947
pharmgkbrs398122947
gwascentralrs398122947
openSNPrs398122947
23andMers398122947
23andMe allrs398122947
SNP Nexus

SNPshotrs398122947
SNPdbers398122947
MSV3drs398122947
GWAS Ctlgrs398122947
Max Magnitude0
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,