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rs397516353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs397516353(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position55154109
GeneTNNI3
is asnp
is mentioned by
dbSNPrs397516353
ClinGenrs397516353
ebirs397516353
HLIrs397516353
Exacrs397516353
Varsomers397516353
Maprs397516353
PheGenIrs397516353
hapmaprs397516353
1000 genomesrs397516353
hgdprs397516353
ensemblrs397516353
gopubmedrs397516353
geneviewrs397516353
scholarrs397516353
googlers397516353
pharmgkbrs397516353
gwascentralrs397516353
openSNPrs397516353
23andMers397516353
23andMe allrs397516353
SNP Nexus

SNPshotrs397516353
SNPdbers397516353
MSV3drs397516353
GWAS Ctlgrs397516353
Max Magnitude6
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 rs397516353(T;T)
Alt rs397516353(T;T)
Reference Rs397516353(C;C)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55665477G>A
CLNSRC Children's Hospital of Eastern Ontario UniProtKB (protein)
CLNACC RCV000159227.2, RCV000211863.1,