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rs1060501481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060501481(-;AA)
Make rs1060501481(AA;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position47337420
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs1060501481
dbSNP (classic)rs1060501481
ClinGenrs1060501481
ebirs1060501481
HLIrs1060501481
Exacrs1060501481
Gnomadrs1060501481
Varsomers1060501481
LitVarrs1060501481
Maprs1060501481
PheGenIrs1060501481
Biobankrs1060501481
1000 genomesrs1060501481
hgdprs1060501481
ensemblrs1060501481
geneviewrs1060501481
scholarrs1060501481
googlers1060501481
pharmgkbrs1060501481
gwascentralrs1060501481
openSNPrs1060501481
23andMers1060501481
SNPshotrs1060501481
SNPdbers1060501481
MSV3drs1060501481
GWAS Ctlgrs1060501481
Max Magnitude0
ClinVar
Risk rs1060501481(AA;AA)
Alt rs1060501481(AA;AA)
Reference Rs1060501481(-;-)
Significance Pathogenic
Disease Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47358971_47358972insTT
CLNSRC
CLNACC RCV000469319.1,