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rs397516486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397516486(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63061758
GeneTPM1
is asnp
is mentioned by
dbSNPrs397516486
dbSNP (classic)rs397516486
ClinGenrs397516486
ebirs397516486
HLIrs397516486
Exacrs397516486
Gnomadrs397516486
Varsomers397516486
LitVarrs397516486
Maprs397516486
PheGenIrs397516486
Biobankrs397516486
1000 genomesrs397516486
hgdprs397516486
ensemblrs397516486
geneviewrs397516486
scholarrs397516486
googlers397516486
pharmgkbrs397516486
gwascentralrs397516486
openSNPrs397516486
23andMers397516486
SNPshotrs397516486
SNPdbers397516486
MSV3drs397516486
GWAS Ctlgrs397516486
Max Magnitude6.2
ClinVar
Risk rs397516486(G;G)
Alt rs397516486(G;G)
Reference Rs397516486(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63353957C>G
CLNSRC ClinVar
CLNACC RCV000036629.2,