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rs1060501478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501478(-;-)
Make rs1060501478(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position47338549
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs1060501478
dbSNP (classic)rs1060501478
ClinGenrs1060501478
ebirs1060501478
HLIrs1060501478
Exacrs1060501478
Gnomadrs1060501478
Varsomers1060501478
LitVarrs1060501478
Maprs1060501478
PheGenIrs1060501478
Biobankrs1060501478
1000 genomesrs1060501478
hgdprs1060501478
ensemblrs1060501478
geneviewrs1060501478
scholarrs1060501478
googlers1060501478
pharmgkbrs1060501478
gwascentralrs1060501478
openSNPrs1060501478
23andMers1060501478
SNPshotrs1060501478
SNPdbers1060501478
MSV3drs1060501478
GWAS Ctlgrs1060501478
Max Magnitude0
ClinVar
Risk rs1060501478(-;-)
Alt rs1060501478(-;-)
Reference Rs1060501478(A;A)
Significance Pathogenic
Disease Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47360100delT
CLNSRC
CLNACC RCV000466875.1,