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rs143978652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143978652(A;A)
Make rs143978652(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23393437
GeneMYH6
is asnp
is mentioned by
dbSNPrs143978652
ebirs143978652
HLIrs143978652
Exacrs143978652
Varsomers143978652
Maprs143978652
PheGenIrs143978652
hapmaprs143978652
1000 genomesrs143978652
hgdprs143978652
ensemblrs143978652
gopubmedrs143978652
geneviewrs143978652
scholarrs143978652
googlers143978652
pharmgkbrs143978652
gwascentralrs143978652
openSNPrs143978652
23andMers143978652
23andMe allrs143978652
SNP Nexus

SNPshotrs143978652
SNPdbers143978652
MSV3drs143978652
GWAS Ctlgrs143978652
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs143978652(A;A)
Alt rs143978652(A;A)
Reference rs143978652(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1EE not specified not provided Dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 Sudden cardiac death
Variation info
Gene MYH6
CLNDBN Dilated cardiomyopathy 1EE not specified not provided Dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 Sudden cardiac death
Reversed 0
HGVS NC_000014.8:g.23862646C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000015214.25, RCV000037468.3, RCV000050242.5, RCV000172563.1, RCV000190123.1, RCV000201499.1,