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rs786204362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204362(-;-)
Make rs786204362(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47332123
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs786204362
dbSNP (classic)rs786204362
ClinGenrs786204362
ebirs786204362
HLIrs786204362
Exacrs786204362
Gnomadrs786204362
Varsomers786204362
LitVarrs786204362
Maprs786204362
PheGenIrs786204362
Biobankrs786204362
1000 genomesrs786204362
hgdprs786204362
ensemblrs786204362
geneviewrs786204362
scholarrs786204362
googlers786204362
pharmgkbrs786204362
gwascentralrs786204362
openSNPrs786204362
23andMers786204362
SNPshotrs786204362
SNPdbers786204362
MSV3drs786204362
GWAS Ctlgrs786204362
Max Magnitude0
ClinVar
Risk rs786204362(-;-)
Alt rs786204362(-;-)
Reference Rs786204362(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353674delC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168826.2,