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rs397515625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515625(C;T)
Make rs397515625(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43169160
GeneCRYAA
is asnp
is mentioned by
dbSNPrs397515625
ebirs397515625
HLIrs397515625
Exacrs397515625
Varsomers397515625
Maprs397515625
PheGenIrs397515625
hapmaprs397515625
1000 genomesrs397515625
hgdprs397515625
ensemblrs397515625
gopubmedrs397515625
geneviewrs397515625
scholarrs397515625
googlers397515625
pharmgkbrs397515625
gwascentralrs397515625
openSNPrs397515625
23andMers397515625
23andMe allrs397515625
SNP Nexus

SNPshotrs397515625
SNPdbers397515625
MSV3drs397515625
GWAS Ctlgrs397515625
Max Magnitude0
ClinVar
Risk rs397515625(A,T;A,T)
Alt rs397515625(A,T;A,T)
Reference rs397515625(C;C)
Significance Pathogenic
Disease Cataract Congenital cataract
Variation info
Gene LOC102724652 CRYAA
CLNDBN Cataract, autosomal dominant, multiple types, with microcornea Congenital cataract
Reversed 0
HGVS NC_000021.8:g.44589270C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000059329.28, RCV000203310.1,