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rs117749531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs117749531(A;A)
Make rs117749531(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position119676794
GeneBAG3
is asnp
is mentioned by
dbSNPrs117749531
dbSNP (old)rs117749531
ClinGenrs117749531
ebirs117749531
HLIrs117749531
Exacrs117749531
Gnomadrs117749531
Varsomers117749531
Maprs117749531
PheGenIrs117749531
Biobankrs117749531
1000 genomesrs117749531
hgdprs117749531
ensemblrs117749531
gopubmedrs117749531
geneviewrs117749531
scholarrs117749531
googlers117749531
pharmgkbrs117749531
gwascentralrs117749531
openSNPrs117749531
23andMers117749531
23andMe allrs117749531
SNPshotrs117749531
SNPdbers117749531
MSV3drs117749531
GWAS Ctlgrs117749531
Max Magnitude0
ClinVar
Risk rs117749531(A;A) rs117749531(T;T)
Alt rs117749531(A;A) rs117749531(T;T)
Reference Rs117749531(G;G)
Significance Probable-Pathogenic
Disease not specified Myofibrillar Myopathy Dilated Cardiomyopathy Dilated cardiomyopathy 1HH
Variation info
Gene BAG3
CLNDBN not specified Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Dilated cardiomyopathy 1HH
Reversed 0
HGVS NC_000010.10:g.121436306G>A; NC_000010.10:g.121436306G>T
CLNSRC
CLNACC RCV000150185.1, RCV000296394.1, RCV000335067.1, RCV000458004.1,