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rs387906397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906397(G;G)
Make rs387906397(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333192
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs387906397
ebirs387906397
HLIrs387906397
Exacrs387906397
Varsomers387906397
Maprs387906397
PheGenIrs387906397
hapmaprs387906397
1000 genomesrs387906397
hgdprs387906397
ensemblrs387906397
gopubmedrs387906397
geneviewrs387906397
scholarrs387906397
googlers387906397
pharmgkbrs387906397
gwascentralrs387906397
openSNPrs387906397
23andMers387906397
23andMe allrs387906397
SNP Nexus

SNPshotrs387906397
SNPdbers387906397
MSV3drs387906397
GWAS Ctlgrs387906397
Max Magnitude0
ClinVar
Risk rs387906397(C,G;C,G)
Alt rs387906397(C,G;C,G)
Reference rs387906397(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Cardiomyopathy Inborn genetic diseases Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Cardiomyopathy Inborn genetic diseases Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354743A>C; NC_000011.9:g.47354743A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009152.6, RCV000158229.1, RCV000210564.1, RCV000211821.1, RCV000223892.1, RCV000230753.1, RCV000158228.1,