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rs786204339

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204339(-;-)
Make rs786204339(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47342910
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs786204339
dbSNP (old)rs786204339
ClinGenrs786204339
ebirs786204339
HLIrs786204339
Exacrs786204339
Gnomadrs786204339
Varsomers786204339
Maprs786204339
PheGenIrs786204339
Biobankrs786204339
1000 genomesrs786204339
hgdprs786204339
ensemblrs786204339
gopubmedrs786204339
geneviewrs786204339
scholarrs786204339
googlers786204339
pharmgkbrs786204339
gwascentralrs786204339
openSNPrs786204339
23andMers786204339
23andMe allrs786204339
SNP Nexus

SNPshotrs786204339
SNPdbers786204339
MSV3drs786204339
GWAS Ctlgrs786204339
Max Magnitude0
ClinVar
Risk rs786204339(-;-)
Alt rs786204339(-;-)
Reference Rs786204339(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364461delG
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168774.2,