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rs727504329

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504329(C;T)
Make rs727504329(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47343505
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504329
ebirs727504329
HLIrs727504329
Exacrs727504329
Varsomers727504329
Maprs727504329
PheGenIrs727504329
hapmaprs727504329
1000 genomesrs727504329
hgdprs727504329
ensemblrs727504329
gopubmedrs727504329
geneviewrs727504329
scholarrs727504329
googlers727504329
pharmgkbrs727504329
gwascentralrs727504329
openSNPrs727504329
23andMers727504329
23andMe allrs727504329
SNP Nexus

SNPshotrs727504329
SNPdbers727504329
MSV3drs727504329
GWAS Ctlgrs727504329
Max Magnitude0
ClinVar
Risk rs727504329(T;T)
Alt rs727504329(T;T)
Reference rs727504329(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47365056G>A
CLNSRC
CLNACC RCV000154425.2, RCV000230399.1,