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rs397516340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516340(G;T)
Make rs397516340(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position55157309
GeneTNNI3
is asnp
is mentioned by
dbSNPrs397516340
dbSNP (classic)rs397516340
ClinGenrs397516340
ebirs397516340
HLIrs397516340
Exacrs397516340
Gnomadrs397516340
Varsomers397516340
LitVarrs397516340
Maprs397516340
PheGenIrs397516340
Biobankrs397516340
1000 genomesrs397516340
hgdprs397516340
ensemblrs397516340
geneviewrs397516340
scholarrs397516340
googlers397516340
pharmgkbrs397516340
gwascentralrs397516340
openSNPrs397516340
23andMers397516340
SNPshotrs397516340
SNPdbers397516340
MSV3drs397516340
GWAS Ctlgrs397516340
Max Magnitude0
ClinVar
Risk rs397516340(T;T)
Alt rs397516340(T;T)
Reference Rs397516340(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55668677C>A
CLNSRC ClinVar
CLNACC RCV000036268.2,