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rs397516398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516398(A;A)
Make rs397516398(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110914267
GeneMYL2
is asnp
is mentioned by
dbSNPrs397516398
ebirs397516398
HLIrs397516398
Exacrs397516398
Varsomers397516398
Maprs397516398
PheGenIrs397516398
hapmaprs397516398
1000 genomesrs397516398
hgdprs397516398
ensemblrs397516398
gopubmedrs397516398
geneviewrs397516398
scholarrs397516398
googlers397516398
pharmgkbrs397516398
gwascentralrs397516398
openSNPrs397516398
23andMers397516398
23andMe allrs397516398
SNP Nexus

SNPshotrs397516398
SNPdbers397516398
MSV3drs397516398
GWAS Ctlgrs397516398
Max Magnitude0
ClinVar
Risk rs397516398(A;A)
Alt rs397516398(A;A)
Reference rs397516398(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.111352071C>T
CLNSRC ClinVar
CLNACC RCV000036385.2,