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rs786204324

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs786204324(-;-)
Make rs786204324(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47351351
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs786204324
ClinGenrs786204324
ebirs786204324
HLIrs786204324
Exacrs786204324
Varsomers786204324
Maprs786204324
PheGenIrs786204324
hapmaprs786204324
1000 genomesrs786204324
hgdprs786204324
ensemblrs786204324
gopubmedrs786204324
geneviewrs786204324
scholarrs786204324
googlers786204324
pharmgkbrs786204324
gwascentralrs786204324
openSNPrs786204324
23andMers786204324
23andMe allrs786204324
SNP Nexus

SNPshotrs786204324
SNPdbers786204324
MSV3drs786204324
GWAS Ctlgrs786204324
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs786204324(AG;AG)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372902_47372903delCT
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168738.1,