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rs727504390

From SNPedia

Orientationminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs727504390(-;-)
Make rs727504390(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332195
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504390
ebirs727504390
HLIrs727504390
Exacrs727504390
Varsomers727504390
Maprs727504390
PheGenIrs727504390
hapmaprs727504390
1000 genomesrs727504390
hgdprs727504390
ensemblrs727504390
gopubmedrs727504390
geneviewrs727504390
scholarrs727504390
googlers727504390
pharmgkbrs727504390
gwascentralrs727504390
openSNPrs727504390
23andMers727504390
23andMe allrs727504390
SNP Nexus

SNPshotrs727504390
SNPdbers727504390
MSV3drs727504390
GWAS Ctlgrs727504390
Max Magnitude0
ClinVar
Risk rs727504390(;)
Alt rs727504390(;)
Reference rs727504390(CA;CA)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353746_47353747delTG
CLNSRC
CLNACC RCV000154552.2,