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rs727503171

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503171(C;T)
Make rs727503171(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332580
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503171
ebirs727503171
HLIrs727503171
Exacrs727503171
Varsomers727503171
Maprs727503171
PheGenIrs727503171
hapmaprs727503171
1000 genomesrs727503171
hgdprs727503171
ensemblrs727503171
gopubmedrs727503171
geneviewrs727503171
scholarrs727503171
googlers727503171
pharmgkbrs727503171
gwascentralrs727503171
openSNPrs727503171
23andMers727503171
23andMe allrs727503171
SNP Nexus

SNPshotrs727503171
SNPdbers727503171
MSV3drs727503171
GWAS Ctlgrs727503171
Max Magnitude0
ClinVar
Risk rs727503171(T;T)
Alt rs727503171(T;T)
Reference rs727503171(C;C)
Significance Probable-Pathogenic
Disease not specified not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354131G>A
CLNSRC
CLNACC RCV000151066.1, RCV000158246.2, RCV000208211.1,