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rs587782965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782965(A;A)
Make rs587782965(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110914221
GeneMYL2
is asnp
is mentioned by
dbSNPrs587782965
dbSNP (classic)rs587782965
ClinGenrs587782965
ebirs587782965
HLIrs587782965
Exacrs587782965
Gnomadrs587782965
Varsomers587782965
LitVarrs587782965
Maprs587782965
PheGenIrs587782965
Biobankrs587782965
1000 genomesrs587782965
hgdprs587782965
ensemblrs587782965
geneviewrs587782965
scholarrs587782965
googlers587782965
pharmgkbrs587782965
gwascentralrs587782965
openSNPrs587782965
23andMers587782965
SNPshotrs587782965
SNPdbers587782965
MSV3drs587782965
GWAS Ctlgrs587782965
Max Magnitude0
ClinVar
Risk rs587782965(A;A)
Alt rs587782965(A;A)
Reference Rs587782965(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111352025G>T
CLNSRC
CLNACC RCV000143928.2,