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rs869248137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.5 Myofibrillar Myopathy
Make rs869248137(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position119676479
GeneBAG3
is asnp
is mentioned by
dbSNPrs869248137
dbSNP (classic)rs869248137
ClinGenrs869248137
ebirs869248137
HLIrs869248137
Exacrs869248137
Gnomadrs869248137
Varsomers869248137
LitVarrs869248137
Maprs869248137
PheGenIrs869248137
Biobankrs869248137
1000 genomesrs869248137
hgdprs869248137
ensemblrs869248137
geneviewrs869248137
scholarrs869248137
googlers869248137
pharmgkbrs869248137
gwascentralrs869248137
openSNPrs869248137
23andMers869248137
SNPshotrs869248137
SNPdbers869248137
MSV3drs869248137
GWAS Ctlgrs869248137
Max Magnitude6.5
ClinVar
Risk rs869248137(T;T)
Alt rs869248137(T;T)
Reference Rs869248137(C;C)
Significance Pathogenic
Disease Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1HH
Variation info
Gene BAG3
CLNDBN Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1HH
Reversed 0
HGVS NC_000010.10:g.121435991C>T
CLNSRC
CLNACC RCV000215224.1, RCV000414723.1, RCV000459684.1,