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rs121918312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.5 Myofibrillar Myopathy
(C;C) 0 common in clinvar
Make rs121918312(C;T)
Make rs121918312(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position119672373
GeneBAG3
is asnp
is mentioned by
dbSNPrs121918312
dbSNP (classic)rs121918312
ClinGenrs121918312
ebirs121918312
HLIrs121918312
Exacrs121918312
Gnomadrs121918312
Varsomers121918312
LitVarrs121918312
Maprs121918312
PheGenIrs121918312
Biobankrs121918312
1000 genomesrs121918312
hgdprs121918312
ensemblrs121918312
geneviewrs121918312
scholarrs121918312
googlers121918312
pharmgkbrs121918312
gwascentralrs121918312
openSNPrs121918312
23andMers121918312
SNPshotrs121918312
SNPdbers121918312
MSV3drs121918312
GWAS Ctlgrs121918312
Max Magnitude6.5
OMIM603883
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918312(A;A) rs121918312(T;T)
Alt rs121918312(A;A) rs121918312(T;T)
Reference Rs121918312(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy not provided
Variation info
Gene BAG3
CLNDBN Myofibrillar myopathy, BAG3-related not provided
Reversed 0
HGVS NC_000010.10:g.121431885C>A; NC_000010.10:g.121431885C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144684.2, RCV000006347.3, RCV000183317.2,