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rs397516045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516045(C;C)
Make rs397516045(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47352645
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516045
ebirs397516045
HLIrs397516045
Exacrs397516045
Varsomers397516045
Maprs397516045
PheGenIrs397516045
hapmaprs397516045
1000 genomesrs397516045
hgdprs397516045
ensemblrs397516045
gopubmedrs397516045
geneviewrs397516045
scholarrs397516045
googlers397516045
pharmgkbrs397516045
gwascentralrs397516045
openSNPrs397516045
23andMers397516045
23andMe allrs397516045
SNP Nexus

SNPshotrs397516045
SNPdbers397516045
MSV3drs397516045
GWAS Ctlgrs397516045
Max Magnitude0
ClinVar
Risk rs397516045(A,C;A,C)
Alt rs397516045(A,C;A,C)
Reference rs397516045(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.47374196C>G
CLNSRC ClinVar
CLNACC RCV000035622.2,