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rs121908334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908334(C;T)
Make rs121908334(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position86687218
GeneLDB3
is asnp
is mentioned by
dbSNPrs121908334
dbSNP (classic)rs121908334
ClinGenrs121908334
ebirs121908334
HLIrs121908334
Exacrs121908334
Gnomadrs121908334
Varsomers121908334
LitVarrs121908334
Maprs121908334
PheGenIrs121908334
Biobankrs121908334
1000 genomesrs121908334
hgdprs121908334
ensemblrs121908334
geneviewrs121908334
scholarrs121908334
googlers121908334
pharmgkbrs121908334
gwascentralrs121908334
openSNPrs121908334
23andMers121908334
SNPshotrs121908334
SNPdbers121908334
MSV3drs121908334
GWAS Ctlgrs121908334
Max Magnitude0
OMIM605906
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908334(T;T)
Alt rs121908334(T;T)
Reference Rs121908334(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy Primary dilated cardiomyopathy Myofibrillar myopathy not provided
Variation info
Gene LDB3
CLNDBN Myofibrillar myopathy, ZASP-related Primary dilated cardiomyopathy Myofibrillar myopathy not provided
Reversed 0
HGVS NC_000010.10:g.88446975C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004993.3, RCV000036847.2, RCV000239669.1, RCV000493600.1,