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rs397516399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516399(C;C)
Make rs397516399(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110914200
GeneMYL2
is asnp
is mentioned by
dbSNPrs397516399
ebirs397516399
HLIrs397516399
Exacrs397516399
Varsomers397516399
Maprs397516399
PheGenIrs397516399
hapmaprs397516399
1000 genomesrs397516399
hgdprs397516399
ensemblrs397516399
gopubmedrs397516399
geneviewrs397516399
scholarrs397516399
googlers397516399
pharmgkbrs397516399
gwascentralrs397516399
openSNPrs397516399
23andMers397516399
23andMe allrs397516399
SNP Nexus

SNPshotrs397516399
SNPdbers397516399
MSV3drs397516399
GWAS Ctlgrs397516399
Max Magnitude0
ClinVar
Risk rs397516399(C;C)
Alt rs397516399(C;C)
Reference rs397516399(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111352004C>G
CLNSRC ClinVar
CLNACC RCV000036387.2,