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rs104894201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894201(A;G)
Make rs104894201(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position111908934
GeneCRYAB
is asnp
is mentioned by
dbSNPrs104894201
ebirs104894201
HLIrs104894201
Exacrs104894201
Varsomers104894201
Maprs104894201
PheGenIrs104894201
hapmaprs104894201
1000 genomesrs104894201
hgdprs104894201
ensemblrs104894201
gopubmedrs104894201
geneviewrs104894201
scholarrs104894201
googlers104894201
pharmgkbrs104894201
gwascentralrs104894201
openSNPrs104894201
23andMers104894201
23andMe allrs104894201
SNP Nexus

SNPshotrs104894201
SNPdbers104894201
MSV3drs104894201
GWAS Ctlgrs104894201
Merged fromRs28929489
Max Magnitude0
OMIM123590
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894201(G;G)
Alt rs104894201(G;G)
Reference rs104894201(A;A)
Significance Pathogenic
Disease Alpha-B crystallinopathy
Variation info
Gene CRYAB
CLNDBN Alpha-B crystallinopathy
Reversed 1
HGVS NC_000011.9:g.111779658T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018465.29,