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rs727504279

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504279(C;C)
Make rs727504279(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47343029
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504279
ebirs727504279
HLIrs727504279
Exacrs727504279
Varsomers727504279
Maprs727504279
PheGenIrs727504279
hapmaprs727504279
1000 genomesrs727504279
hgdprs727504279
ensemblrs727504279
gopubmedrs727504279
geneviewrs727504279
scholarrs727504279
googlers727504279
pharmgkbrs727504279
gwascentralrs727504279
openSNPrs727504279
23andMers727504279
23andMe allrs727504279
SNP Nexus

SNPshotrs727504279
SNPdbers727504279
MSV3drs727504279
GWAS Ctlgrs727504279
Max Magnitude0
ClinVar
Risk rs727504279(C;C)
Alt rs727504279(C;C)
Reference rs727504279(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364580A>G
CLNSRC
CLNACC RCV000154284.2,