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rs863225117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs863225117(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position110915759
GeneMYL2
is asnp
is mentioned by
dbSNPrs863225117
dbSNP (classic)rs863225117
ClinGenrs863225117
ebirs863225117
HLIrs863225117
Exacrs863225117
Gnomadrs863225117
Varsomers863225117
LitVarrs863225117
Maprs863225117
PheGenIrs863225117
Biobankrs863225117
1000 genomesrs863225117
hgdprs863225117
ensemblrs863225117
geneviewrs863225117
scholarrs863225117
googlers863225117
pharmgkbrs863225117
gwascentralrs863225117
openSNPrs863225117
23andMers863225117
SNPshotrs863225117
SNPdbers863225117
MSV3drs863225117
GWAS Ctlgrs863225117
Max Magnitude6.2
ClinVar
Risk rs863225117(A;A)
Alt rs863225117(A;A)
Reference Rs863225117(G;G)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 10
Variation info
Gene MYL2
CLNDBN Familial hypertrophic cardiomyopathy 10
Reversed 1
HGVS NC_000012.11:g.111353563C>T
CLNSRC
CLNACC RCV000201445.1,