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rs74315439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315439(C;T)
Make rs74315439(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43172104
GeneCRYAA
is asnp
is mentioned by
dbSNPrs74315439
ebirs74315439
HLIrs74315439
Exacrs74315439
Varsomers74315439
Maprs74315439
PheGenIrs74315439
hapmaprs74315439
1000 genomesrs74315439
hgdprs74315439
ensemblrs74315439
gopubmedrs74315439
geneviewrs74315439
scholarrs74315439
googlers74315439
pharmgkbrs74315439
gwascentralrs74315439
openSNPrs74315439
23andMers74315439
23andMe allrs74315439
SNP Nexus

SNPshotrs74315439
SNPdbers74315439
MSV3drs74315439
GWAS Ctlgrs74315439
Max Magnitude0
OMIM123580
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315439(T;T)
Alt rs74315439(T;T)
Reference rs74315439(C;C)
Significance Pathogenic
Disease Cataract
Variation info
Gene LOC102724652 CRYAA
CLNDBN Cataract, autosomal dominant
Reversed 0
HGVS NC_000021.8:g.44592214C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018469.25,