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rs397515624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515624(C;T)
Make rs397515624(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43169133
GeneCRYAA
is asnp
is mentioned by
dbSNPrs397515624
ebirs397515624
HLIrs397515624
Exacrs397515624
Varsomers397515624
Maprs397515624
PheGenIrs397515624
hapmaprs397515624
1000 genomesrs397515624
hgdprs397515624
ensemblrs397515624
gopubmedrs397515624
geneviewrs397515624
scholarrs397515624
googlers397515624
pharmgkbrs397515624
gwascentralrs397515624
openSNPrs397515624
23andMers397515624
23andMe allrs397515624
SNP Nexus

SNPshotrs397515624
SNPdbers397515624
MSV3drs397515624
GWAS Ctlgrs397515624
Max Magnitude0
ClinVar
Risk rs397515624(T;T)
Alt rs397515624(T;T)
Reference rs397515624(C;C)
Significance Pathogenic
Disease Cataract
Variation info
Gene LOC102724652 CRYAA
CLNDBN Cataract, autosomal dominant, multiple types, with microcornea
Reversed 0
HGVS NC_000021.8:g.44589243C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000059328.29,