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rs727503260

From SNPedia

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


Make rs727503260(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23425403
GeneMYH7
is asnp
is mentioned by
dbSNPrs727503260
ClinGenrs727503260
ebirs727503260
HLIrs727503260
Exacrs727503260
Varsomers727503260
Maprs727503260
PheGenIrs727503260
hapmaprs727503260
1000 genomesrs727503260
hgdprs727503260
ensemblrs727503260
gopubmedrs727503260
geneviewrs727503260
scholarrs727503260
googlers727503260
pharmgkbrs727503260
gwascentralrs727503260
openSNPrs727503260
23andMers727503260
23andMe allrs727503260
SNP Nexus

SNPshotrs727503260
SNPdbers727503260
MSV3drs727503260
GWAS Ctlgrs727503260
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 rs727503260(A;A) rs727503260(C;C)
Alt rs727503260(A;A) rs727503260(C;C)
Reference Rs727503260(G;G)
Significance Other
Disease not provided Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not provided Cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894612C>G; NC_000014.8:g.23894612C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000158527.1, RCV000151276.2, RCV000158526.2, RCV000462424.1,