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rs727504418

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504418(C;T)
Make rs727504418(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47335943
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504418
ebirs727504418
HLIrs727504418
Exacrs727504418
Varsomers727504418
Maprs727504418
PheGenIrs727504418
hapmaprs727504418
1000 genomesrs727504418
hgdprs727504418
ensemblrs727504418
gopubmedrs727504418
geneviewrs727504418
scholarrs727504418
googlers727504418
pharmgkbrs727504418
gwascentralrs727504418
openSNPrs727504418
23andMers727504418
23andMe allrs727504418
SNP Nexus

SNPshotrs727504418
SNPdbers727504418
MSV3drs727504418
GWAS Ctlgrs727504418
Max Magnitude0
ClinVar
Risk rs727504418(T;T)
Alt rs727504418(T;T)
Reference rs727504418(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47357494G>A
CLNSRC
CLNACC RCV000154612.2,