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rs121913658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913658(C;G)
Make rs121913658(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110913316
GeneMYL2
is asnp
is mentioned by
dbSNPrs121913658
ebirs121913658
HLIrs121913658
Exacrs121913658
Varsomers121913658
Maprs121913658
PheGenIrs121913658
hapmaprs121913658
1000 genomesrs121913658
hgdprs121913658
ensemblrs121913658
gopubmedrs121913658
geneviewrs121913658
scholarrs121913658
googlers121913658
pharmgkbrs121913658
gwascentralrs121913658
openSNPrs121913658
23andMers121913658
23andMe allrs121913658
SNP Nexus

SNPshotrs121913658
SNPdbers121913658
MSV3drs121913658
GWAS Ctlgrs121913658
Max Magnitude0
OMIM160781
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913658(G;G)
Alt rs121913658(G;G)
Reference rs121913658(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 10
Variation info
Gene MYL2
CLNDBN Familial hypertrophic cardiomyopathy 10
Reversed 1
HGVS NC_000012.11:g.111351120G>C
CLNSRC Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant
CLNACC RCV000015110.25,


[PMID 8673105] Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.