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rs3218713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Familial Hypertrophic Cardiomyopathy
(A;G) 3 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome14
Position23431468
GeneMYH7
is asnp
is mentioned by
dbSNPrs3218713
ebirs3218713
HLIrs3218713
Exacrs3218713
Varsomers3218713
Maprs3218713
PheGenIrs3218713
hapmaprs3218713
1000 genomesrs3218713
hgdprs3218713
ensemblrs3218713
gopubmedrs3218713
geneviewrs3218713
scholarrs3218713
googlers3218713
pharmgkbrs3218713
gwascentralrs3218713
openSNPrs3218713
23andMers3218713
23andMe allrs3218713
SNP Nexus

SNPshotrs3218713
SNPdbers3218713
MSV3drs3218713
GWAS Ctlgrs3218713
Max Magnitude3
Familial hypertrophic cardiomyopathy

see also OMIM 160760.0002

? (A;A) (A;G) (G;G) 28
OMIM160760
DescCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
Variant0002
Relatedalso


ClinVar
Risk rs3218713(A;A)
Alt rs3218713(A;A)
Reference rs3218713(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23900677C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015144.27, RCV000036000.3, RCV000158761.2, RCV000229956.1,