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rs727504310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs727504310(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23424909
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504310
dbSNP (old)rs727504310
ClinGenrs727504310
ebirs727504310
HLIrs727504310
Exacrs727504310
Gnomadrs727504310
Varsomers727504310
Maprs727504310
PheGenIrs727504310
Biobankrs727504310
1000 genomesrs727504310
hgdprs727504310
ensemblrs727504310
gopubmedrs727504310
geneviewrs727504310
scholarrs727504310
googlers727504310
pharmgkbrs727504310
gwascentralrs727504310
openSNPrs727504310
23andMers727504310
23andMe allrs727504310
SNP Nexus

SNPshotrs727504310
SNPdbers727504310
MSV3drs727504310
GWAS Ctlgrs727504310
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 rs727504310(G;G)
Alt rs727504310(G;G)
Reference Rs727504310(A;A)
Significance Probable-Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894118T>C
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000154374.2, RCV000168873.1, RCV000257927.2,