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rs373746463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs373746463(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333189
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs373746463
ClinGenrs373746463
ebirs373746463
HLIrs373746463
Exacrs373746463
Varsomers373746463
Maprs373746463
PheGenIrs373746463
hapmaprs373746463
1000 genomesrs373746463
hgdprs373746463
ensemblrs373746463
gopubmedrs373746463
geneviewrs373746463
scholarrs373746463
googlers373746463
pharmgkbrs373746463
gwascentralrs373746463
openSNPrs373746463
23andMers373746463
23andMe allrs373746463
SNP Nexus

SNPshotrs373746463
SNPdbers373746463
MSV3drs373746463
GWAS Ctlgrs373746463
Max Magnitude6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].

ClinVar
Risk rs373746463(A;A) rs373746463(G;G) rs373746463(T;T)
Alt rs373746463(A;A) rs373746463(G;G) rs373746463(T;T)
Reference Rs373746463(C;C)
Significance Other
Disease not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Reversed 0
HGVS NC_000011.9:g.47354740C>A; NC_000011.9:g.47354740C>G; NC_000011.9:g.47354740C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000158457.2, RCV000211728.1, RCV000248382.1, RCV000197890.2, RCV000211822.2, RCV000223725.2, RCV000247970.1, RCV000009133.3, RCV000158230.3,