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rs397516041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516041(A;A)
Make rs397516041(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332089
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516041
ebirs397516041
HLIrs397516041
Exacrs397516041
Varsomers397516041
Maprs397516041
PheGenIrs397516041
hapmaprs397516041
1000 genomesrs397516041
hgdprs397516041
ensemblrs397516041
gopubmedrs397516041
geneviewrs397516041
scholarrs397516041
googlers397516041
pharmgkbrs397516041
gwascentralrs397516041
openSNPrs397516041
23andMers397516041
23andMe allrs397516041
SNP Nexus

SNPshotrs397516041
SNPdbers397516041
MSV3drs397516041
GWAS Ctlgrs397516041
Max Magnitude0
ClinVar
Risk rs397516041(A;A)
Alt rs397516041(A;A)
Reference rs397516041(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353640C>T
CLNSRC ClinVar
CLNACC RCV000035618.2,