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rs397516040

From SNPedia

Orientationminus
Geno Mag Summary
(CCA;CCA) 0 common in clinvar
Make rs397516040(-;-)
Make rs397516040(-;CCA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332117
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516040
ebirs397516040
HLIrs397516040
Exacrs397516040
Varsomers397516040
Maprs397516040
PheGenIrs397516040
hapmaprs397516040
1000 genomesrs397516040
hgdprs397516040
ensemblrs397516040
gopubmedrs397516040
geneviewrs397516040
scholarrs397516040
googlers397516040
pharmgkbrs397516040
gwascentralrs397516040
openSNPrs397516040
23andMers397516040
23andMe allrs397516040
SNP Nexus

SNPshotrs397516040
SNPdbers397516040
MSV3drs397516040
GWAS Ctlgrs397516040
Max Magnitude0
ClinVar
Risk rs397516040(;)
Alt rs397516040(;)
Reference rs397516040(CCA;CCA)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47353668_47353670delTGG
CLNSRC
CLNACC RCV000035616.4, RCV000158408.2,