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rs869025485

From SNPedia

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


Make rs869025485(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position46859573
GeneMYL3
is asnp
is mentioned by
dbSNPrs869025485
dbSNP (classic)rs869025485
ClinGenrs869025485
ebirs869025485
HLIrs869025485
Exacrs869025485
Gnomadrs869025485
Varsomers869025485
LitVarrs869025485
Maprs869025485
PheGenIrs869025485
Biobankrs869025485
1000 genomesrs869025485
hgdprs869025485
ensemblrs869025485
geneviewrs869025485
scholarrs869025485
googlers869025485
pharmgkbrs869025485
gwascentralrs869025485
openSNPrs869025485
23andMers869025485
SNPshotrs869025485
SNPdbers869025485
MSV3drs869025485
GWAS Ctlgrs869025485
Max Magnitude6.2
ClinVar
Risk rs869025485(A;A)
Alt rs869025485(A;A)
Reference Rs869025485(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.46901063C>T
CLNSRC
CLNACC RCV000208278.1,