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rs727504423

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504423(A;T)
Make rs727504423(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47333963
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504423
ebirs727504423
HLIrs727504423
Exacrs727504423
Varsomers727504423
Maprs727504423
PheGenIrs727504423
hapmaprs727504423
1000 genomesrs727504423
hgdprs727504423
ensemblrs727504423
gopubmedrs727504423
geneviewrs727504423
scholarrs727504423
googlers727504423
pharmgkbrs727504423
gwascentralrs727504423
openSNPrs727504423
23andMers727504423
23andMe allrs727504423
SNP Nexus

SNPshotrs727504423
SNPdbers727504423
MSV3drs727504423
GWAS Ctlgrs727504423
Max Magnitude0
ClinVar
Risk rs727504423(T;T)
Alt rs727504423(T;T)
Reference rs727504423(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47355514T>A
CLNSRC
CLNACC RCV000154619.2,