Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204327(-;GC)
Make rs786204327(GC;GC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47349885
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs786204327
dbSNP (classic)rs786204327
ClinGenrs786204327
ebirs786204327
HLIrs786204327
Exacrs786204327
Gnomadrs786204327
Varsomers786204327
LitVarrs786204327
Maprs786204327
PheGenIrs786204327
Biobankrs786204327
1000 genomesrs786204327
hgdprs786204327
ensemblrs786204327
geneviewrs786204327
scholarrs786204327
googlers786204327
pharmgkbrs786204327
gwascentralrs786204327
openSNPrs786204327
23andMers786204327
SNPshotrs786204327
SNPdbers786204327
MSV3drs786204327
GWAS Ctlgrs786204327
Max Magnitude0
ClinVar
Risk rs786204327(GC;GC)
Alt rs786204327(GC;GC)
Reference Rs786204327(-;-)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371437_47371438dupGC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168748.2,