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rs727504241

From SNPedia

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


Make rs727504241(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23425783
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504241
dbSNP (old)rs727504241
ClinGenrs727504241
ebirs727504241
HLIrs727504241
Exacrs727504241
Gnomadrs727504241
Varsomers727504241
Maprs727504241
PheGenIrs727504241
Biobankrs727504241
1000 genomesrs727504241
hgdprs727504241
ensemblrs727504241
gopubmedrs727504241
geneviewrs727504241
scholarrs727504241
googlers727504241
pharmgkbrs727504241
gwascentralrs727504241
openSNPrs727504241
23andMers727504241
23andMe allrs727504241
SNP Nexus

SNPshotrs727504241
SNPdbers727504241
MSV3drs727504241
GWAS Ctlgrs727504241
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 rs727504241(A;A) rs727504241(T;T)
Alt rs727504241(A;A) rs727504241(T;T)
Reference Rs727504241(G;G)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894992C>A; NC_000014.8:g.23894992C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000158518.1, RCV000154207.1,