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

rs397516047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs397516047(-;-)
Make rs397516047(-;GT)
ReferenceGRCh38 38.1/141
Chromosome11
Position47350087
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516047
ebirs397516047
HLIrs397516047
Exacrs397516047
Varsomers397516047
Maprs397516047
PheGenIrs397516047
hapmaprs397516047
1000 genomesrs397516047
hgdprs397516047
ensemblrs397516047
gopubmedrs397516047
geneviewrs397516047
scholarrs397516047
googlers397516047
pharmgkbrs397516047
gwascentralrs397516047
openSNPrs397516047
23andMers397516047
23andMe allrs397516047
SNP Nexus

SNPshotrs397516047
SNPdbers397516047
MSV3drs397516047
GWAS Ctlgrs397516047
Max Magnitude0
ClinVar
Risk rs397516047(;)
Alt rs397516047(;)
Reference rs397516047(GT;GT)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371638_47371639delAC
CLNSRC ClinVar
CLNACC RCV000035624.2,