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rs727504252

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504252(A;T)
Make rs727504252(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47337556
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504252
ebirs727504252
HLIrs727504252
Exacrs727504252
Varsomers727504252
Maprs727504252
PheGenIrs727504252
hapmaprs727504252
1000 genomesrs727504252
hgdprs727504252
ensemblrs727504252
gopubmedrs727504252
geneviewrs727504252
scholarrs727504252
googlers727504252
pharmgkbrs727504252
gwascentralrs727504252
openSNPrs727504252
23andMers727504252
23andMe allrs727504252
SNP Nexus

SNPshotrs727504252
SNPdbers727504252
MSV3drs727504252
GWAS Ctlgrs727504252
Max Magnitude0
ClinVar
Risk rs727504252(T;T)
Alt rs727504252(T;T)
Reference rs727504252(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.47359107T>A
CLNSRC
CLNACC RCV000154225.2,