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rs112738974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112738974(C;G)
Make rs112738974(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47338519
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs112738974
ebirs112738974
HLIrs112738974
Exacrs112738974
Varsomers112738974
Maprs112738974
PheGenIrs112738974
hapmaprs112738974
1000 genomesrs112738974
hgdprs112738974
ensemblrs112738974
gopubmedrs112738974
geneviewrs112738974
scholarrs112738974
googlers112738974
pharmgkbrs112738974
gwascentralrs112738974
openSNPrs112738974
23andMers112738974
23andMe allrs112738974
SNP Nexus

SNPshotrs112738974
SNPdbers112738974
MSV3drs112738974
GWAS Ctlgrs112738974
Max Magnitude0
ClinVar
Risk rs112738974(A,G,T;A,G,T)
Alt rs112738974(A,G,T;A,G,T)
Reference rs112738974(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47360070C>A; NC_000011.9:g.47360070C>T
CLNSRC ClinVar
CLNACC RCV000035479.2, RCV000158148.2, RCV000230791.1, RCV000035478.5, RCV000158147.2,