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rs111729952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111729952(G;G)
Make rs111729952(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337796
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs111729952
ebirs111729952
HLIrs111729952
Exacrs111729952
Varsomers111729952
Maprs111729952
PheGenIrs111729952
hapmaprs111729952
1000 genomesrs111729952
hgdprs111729952
ensemblrs111729952
gopubmedrs111729952
geneviewrs111729952
scholarrs111729952
googlers111729952
pharmgkbrs111729952
gwascentralrs111729952
openSNPrs111729952
23andMers111729952
23andMe allrs111729952
SNP Nexus

SNPshotrs111729952
SNPdbers111729952
MSV3drs111729952
GWAS Ctlgrs111729952
Max Magnitude0
ClinVar
Risk rs111729952(C,G;C,G)
Alt rs111729952(C,G;C,G)
Reference rs111729952(T;T)
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 0
HGVS NC_000011.9:g.47359347T>C
CLNSRC ClinVar
CLNACC RCV000035481.5, RCV000158149.2, RCV000211804.1,