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rs397516349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs397516349(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position55154145
GeneTNNI3
is asnp
is mentioned by
dbSNPrs397516349
dbSNP (old)rs397516349
ClinGenrs397516349
ebirs397516349
HLIrs397516349
Exacrs397516349
Varsomers397516349
Maprs397516349
PheGenIrs397516349
Biobankrs397516349
1000 genomesrs397516349
hgdprs397516349
ensemblrs397516349
gopubmedrs397516349
geneviewrs397516349
scholarrs397516349
googlers397516349
pharmgkbrs397516349
gwascentralrs397516349
openSNPrs397516349
23andMers397516349
23andMe allrs397516349
SNP Nexus

SNPshotrs397516349
SNPdbers397516349
MSV3drs397516349
GWAS Ctlgrs397516349
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 rs397516349(A;A)
Alt rs397516349(A;A)
Reference Rs397516349(G;G)
Significance Other
Disease not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55665513C>T
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000159223.4, RCV000200141.3, RCV000208273.1,