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rs397516686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516686(A;A)
Make rs397516686(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position111911722
GeneCRYAB, HSPB2, HSPB2-C11orf52
is asnp
is mentioned by
dbSNPrs397516686
ebirs397516686
HLIrs397516686
Exacrs397516686
Varsomers397516686
Maprs397516686
PheGenIrs397516686
hapmaprs397516686
1000 genomesrs397516686
hgdprs397516686
ensemblrs397516686
gopubmedrs397516686
geneviewrs397516686
scholarrs397516686
googlers397516686
pharmgkbrs397516686
gwascentralrs397516686
openSNPrs397516686
23andMers397516686
23andMe allrs397516686
SNP Nexus

SNPshotrs397516686
SNPdbers397516686
MSV3drs397516686
GWAS Ctlgrs397516686
Max Magnitude0
ClinVar
Risk rs397516686(A;A)
Alt rs397516686(A;A)
Reference rs397516686(G;G)
Significance Probable-Pathogenic
Disease Myofibrillar myopathy
Variation info
Gene HSPB2-C11orf52 HSPB2 CRYAB
CLNDBN Myofibrillar myopathy
Reversed 1
HGVS NC_000011.9:g.111782446C>T
CLNSRC ClinVar
CLNACC RCV000037215.2,