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rs387907339

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907339(C;C)
Make rs387907339(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position111908967
GeneCRYAB
is asnp
is mentioned by
dbSNPrs387907339
ebirs387907339
HLIrs387907339
Exacrs387907339
Varsomers387907339
Maprs387907339
PheGenIrs387907339
hapmaprs387907339
1000 genomesrs387907339
hgdprs387907339
ensemblrs387907339
gopubmedrs387907339
geneviewrs387907339
scholarrs387907339
googlers387907339
pharmgkbrs387907339
gwascentralrs387907339
openSNPrs387907339
23andMers387907339
23andMe allrs387907339
SNP Nexus

SNPshotrs387907339
SNPdbers387907339
MSV3drs387907339
GWAS Ctlgrs387907339
Max Magnitude0
ClinVar
Risk rs387907339(C;C)
Alt rs387907339(C;C)
Reference rs387907339(G;G)
Significance Pathogenic
Disease Alpha-B crystallinopathy
Variation info
Gene CRYAB
CLNDBN Alpha-B crystallinopathy
Reversed 1
HGVS NC_000011.9:g.111779691C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034843.29,