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rs397515974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515974(C;G)
Make rs397515974(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337452
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515974
ebirs397515974
HLIrs397515974
Exacrs397515974
Varsomers397515974
Maprs397515974
PheGenIrs397515974
hapmaprs397515974
1000 genomesrs397515974
hgdprs397515974
ensemblrs397515974
gopubmedrs397515974
geneviewrs397515974
scholarrs397515974
googlers397515974
pharmgkbrs397515974
gwascentralrs397515974
openSNPrs397515974
23andMers397515974
23andMe allrs397515974
SNP Nexus

SNPshotrs397515974
SNPdbers397515974
MSV3drs397515974
GWAS Ctlgrs397515974
Max Magnitude0
ClinVar
Risk rs397515974(A,G;A,G)
Alt rs397515974(A,G;A,G)
Reference rs397515974(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359003G>C; NC_000011.9:g.47359003G>T
CLNSRC ClinVar
CLNACC RCV000035504.4, RCV000158167.2, RCV000211807.1, RCV000154489.2,