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rs104894202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894202(C;T)
Make rs104894202(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position111908841
GeneCRYAB
is asnp
is mentioned by
dbSNPrs104894202
ClinGenrs104894202
ebirs104894202
HLIrs104894202
Exacrs104894202
Varsomers104894202
Maprs104894202
PheGenIrs104894202
hapmaprs104894202
1000 genomesrs104894202
hgdprs104894202
ensemblrs104894202
gopubmedrs104894202
geneviewrs104894202
scholarrs104894202
googlers104894202
pharmgkbrs104894202
gwascentralrs104894202
openSNPrs104894202
23andMers104894202
23andMe allrs104894202
SNP Nexus

SNPshotrs104894202
SNPdbers104894202
MSV3drs104894202
GWAS Ctlgrs104894202
Max Magnitude0
OMIM123590
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894202(T;T)
Alt rs104894202(T;T)
Reference Rs104894202(C;C)
Significance Pathogenic
Disease Alpha-B crystallinopathy
Variation info
Gene CRYAB
CLNDBN Alpha-B crystallinopathy
Reversed 1
HGVS NC_000011.9:g.111779565G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018468.29,