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rs727504314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs727504314(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47335876
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504314
ClinGenrs727504314
ebirs727504314
HLIrs727504314
Exacrs727504314
Varsomers727504314
Maprs727504314
PheGenIrs727504314
hapmaprs727504314
1000 genomesrs727504314
hgdprs727504314
ensemblrs727504314
gopubmedrs727504314
geneviewrs727504314
scholarrs727504314
googlers727504314
pharmgkbrs727504314
gwascentralrs727504314
openSNPrs727504314
23andMers727504314
23andMe allrs727504314
SNP Nexus

SNPshotrs727504314
SNPdbers727504314
MSV3drs727504314
GWAS Ctlgrs727504314
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
ClinVar
Risk rs727504314(C;C)
Alt rs727504314(C;C)
Reference Rs727504314(G;G)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47357427C>G
CLNSRC
CLNACC RCV000211809.1,