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rs3218714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Familial Hypertrophic Cardiomyopathy
(T;T) 3 Familial Hypertrophic Cardiomyopathy
ReferenceGRCh38 38.1/141
Chromosome14
Position23429279
GeneMYH7
is asnp
is mentioned by
dbSNPrs3218714
ebirs3218714
HLIrs3218714
Exacrs3218714
Varsomers3218714
Maprs3218714
PheGenIrs3218714
hapmaprs3218714
1000 genomesrs3218714
hgdprs3218714
ensemblrs3218714
gopubmedrs3218714
geneviewrs3218714
scholarrs3218714
googlers3218714
pharmgkbrs3218714
gwascentralrs3218714
openSNPrs3218714
23andMers3218714
23andMe allrs3218714
SNP Nexus

SNPshotrs3218714
SNPdbers3218714
MSV3drs3218714
GWAS Ctlgrs3218714
Max Magnitude3
Familial hypertrophic cardiomyopathy

see also OMIM 160760.0015

? (C;C) (C;T) (T;T) 28
OMIM160760
DescCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
Variant0015
Relatedalso


ClinVar
Risk rs3218714(T;T)
Alt rs3218714(T;T)
Reference rs3218714(C;C)
Significance Other
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000014.8:g.23898488G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015158.23, RCV000035707.2, RCV000158787.2,