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rs143139258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143139258(G;G)
Make rs143139258(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110913097
GeneMYL2
is asnp
is mentioned by
dbSNPrs143139258
ebirs143139258
HLIrs143139258
Exacrs143139258
Varsomers143139258
Maprs143139258
PheGenIrs143139258
hapmaprs143139258
1000 genomesrs143139258
hgdprs143139258
ensemblrs143139258
gopubmedrs143139258
geneviewrs143139258
scholarrs143139258
googlers143139258
pharmgkbrs143139258
gwascentralrs143139258
openSNPrs143139258
23andMers143139258
23andMe allrs143139258
SNP Nexus

SNPshotrs143139258
SNPdbers143139258
MSV3drs143139258
GWAS Ctlgrs143139258
Max Magnitude0
ClinVar
Risk rs143139258(G;G)
Alt rs143139258(G;G)
Reference rs143139258(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 10 not specified
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 10 not specified
Reversed 0
HGVS NC_000012.11:g.111350901T>G
CLNSRC ClinVar University of Washington
CLNACC RCV000036404.3, RCV000119379.1, RCV000154179.3, RCV000211874.1,


[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.