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rs121912973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912973(A;A)
Make rs121912973(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43172105
GeneCRYAA
is asnp
is mentioned by
dbSNPrs121912973
ebirs121912973
HLIrs121912973
Exacrs121912973
Varsomers121912973
Maprs121912973
PheGenIrs121912973
hapmaprs121912973
1000 genomesrs121912973
hgdprs121912973
ensemblrs121912973
gopubmedrs121912973
geneviewrs121912973
scholarrs121912973
googlers121912973
pharmgkbrs121912973
gwascentralrs121912973
openSNPrs121912973
23andMers121912973
23andMe allrs121912973
SNP Nexus

SNPshotrs121912973
SNPdbers121912973
MSV3drs121912973
GWAS Ctlgrs121912973
Max Magnitude0
OMIM123580
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912973(A;A)
Alt rs121912973(A;A)
Reference rs121912973(G;G)
Significance Pathogenic
Disease Cataract
Variation info
Gene LOC102724652 CRYAA
CLNDBN Cataract, autosomal dominant, multiple types, with microcornea Cataract, autosomal dominant
Reversed 0
HGVS NC_000021.8:g.44592215G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018473.29, RCV000059327.22,