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rs281865142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865142(-;-)
Make rs281865142(-;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position111908949
GeneCRYAB
is asnp
is mentioned by
dbSNPrs281865142
ebirs281865142
HLIrs281865142
Exacrs281865142
Varsomers281865142
Maprs281865142
PheGenIrs281865142
hapmaprs281865142
1000 genomesrs281865142
hgdprs281865142
ensemblrs281865142
gopubmedrs281865142
geneviewrs281865142
scholarrs281865142
googlers281865142
pharmgkbrs281865142
gwascentralrs281865142
openSNPrs281865142
23andMers281865142
23andMe allrs281865142
SNP Nexus

SNPshotrs281865142
SNPdbers281865142
MSV3drs281865142
GWAS Ctlgrs281865142
Max Magnitude0
ClinVar
Risk rs281865142(;)
Alt rs281865142(;)
Reference rs281865142(T;T)
Significance Pathogenic
Disease Alpha-B crystallinopathy not provided
Variation info
Gene CRYAB
CLNDBN Alpha-B crystallinopathy not provided
Reversed 1
HGVS NC_000011.9:g.111779673delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032215.1, RCV000183328.1,


[PMID 21130652] Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.