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rs74315441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315441(C;T)
Make rs74315441(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43169244
GeneCRYAA, LOC107987300
is asnp
is mentioned by
dbSNPrs74315441
dbSNP (classic)rs74315441
ClinGenrs74315441
ebirs74315441
HLIrs74315441
Exacrs74315441
Gnomadrs74315441
Varsomers74315441
LitVarrs74315441
Maprs74315441
PheGenIrs74315441
Biobankrs74315441
1000 genomesrs74315441
hgdprs74315441
ensemblrs74315441
geneviewrs74315441
scholarrs74315441
googlers74315441
pharmgkbrs74315441
gwascentralrs74315441
openSNPrs74315441
23andMers74315441
SNPshotrs74315441
SNPdbers74315441
MSV3drs74315441
GWAS Ctlgrs74315441
Max Magnitude0
OMIM123580
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315441(T;T)
Alt rs74315441(T;T)
Reference Rs74315441(C;C)
Significance Pathogenic
Disease Cataract
Variation info
Gene LOC102724652 CRYAA
CLNDBN Cataract, autosomal dominant
Reversed 0
HGVS NC_000021.8:g.44589354C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018472.29,