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

rs869025468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs869025468(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47333703
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs869025468
dbSNP (classic)rs869025468
ClinGenrs869025468
ebirs869025468
HLIrs869025468
Exacrs869025468
Gnomadrs869025468
Varsomers869025468
LitVarrs869025468
Maprs869025468
PheGenIrs869025468
Biobankrs869025468
1000 genomesrs869025468
hgdprs869025468
ensemblrs869025468
geneviewrs869025468
scholarrs869025468
googlers869025468
pharmgkbrs869025468
gwascentralrs869025468
openSNPrs869025468
23andMers869025468
SNPshotrs869025468
SNPdbers869025468
MSV3drs869025468
GWAS Ctlgrs869025468
Max Magnitude6.2
ClinVar
Risk rs869025468(G;G)
Alt rs869025468(G;G)
Reference Rs869025468(-;-)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47355255dupC
CLNSRC
CLNACC RCV000208213.1,