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rs397516351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAG) 6.2 Familial Hypertrophic Cardiomyopathy
(AAG;AAG) 0 common in clinvar


Make rs397516351(-;-)
ReferenceGRCh38 38.1/141
Chromosome19
Position55154045
GeneTNNI3
is asnp
is mentioned by
dbSNPrs397516351
dbSNP (classic)rs397516351
ClinGenrs397516351
ebirs397516351
HLIrs397516351
Exacrs397516351
Gnomadrs397516351
Varsomers397516351
LitVarrs397516351
Maprs397516351
PheGenIrs397516351
Biobankrs397516351
1000 genomesrs397516351
hgdprs397516351
ensemblrs397516351
geneviewrs397516351
scholarrs397516351
googlers397516351
pharmgkbrs397516351
gwascentralrs397516351
openSNPrs397516351
23andMers397516351
SNPshotrs397516351
SNPdbers397516351
MSV3drs397516351
GWAS Ctlgrs397516351
Max Magnitude6.2

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].

ClinVar
Risk rs397516351(-;-)
Alt rs397516351(-;-)
Reference Rs397516351(AAG;AAG)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55665413_55665415delCTT
CLNSRC ClinVar
CLNACC RCV000036297.2,