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rs727504271

From SNPedia

Orientationminus
Geno Mag Summary
(CTGCTGTGCT;CTGCTGTGCT) 0 common in clinvar
Make rs727504271(-;-)
Make rs727504271(-;CTGCTGTGCT)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47332584
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504271
ebirs727504271
HLIrs727504271
Exacrs727504271
Varsomers727504271
Maprs727504271
PheGenIrs727504271
hapmaprs727504271
1000 genomesrs727504271
hgdprs727504271
ensemblrs727504271
gopubmedrs727504271
geneviewrs727504271
scholarrs727504271
googlers727504271
pharmgkbrs727504271
gwascentralrs727504271
openSNPrs727504271
23andMers727504271
23andMe allrs727504271
SNP Nexus

SNPshotrs727504271
SNPdbers727504271
MSV3drs727504271
GWAS Ctlgrs727504271
Max Magnitude0
ClinVar
Risk rs727504271(;)
Alt rs727504271(;)
Reference rs727504271(CTGCTGTGCT;CTGCTGTGCT)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354135_47354144delAGCACAGCAG
CLNSRC
CLNACC RCV000154261.4, RCV000211826.1,