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rs397516354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy


Make rs397516354(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position55154094
GeneTNNI3
is asnp
is mentioned by
dbSNPrs397516354
dbSNP (classic)rs397516354
ClinGenrs397516354
ebirs397516354
HLIrs397516354
Exacrs397516354
Gnomadrs397516354
Varsomers397516354
LitVarrs397516354
Maprs397516354
PheGenIrs397516354
Biobankrs397516354
1000 genomesrs397516354
hgdprs397516354
ensemblrs397516354
geneviewrs397516354
scholarrs397516354
googlers397516354
pharmgkbrs397516354
gwascentralrs397516354
openSNPrs397516354
23andMers397516354
SNPshotrs397516354
SNPdbers397516354
MSV3drs397516354
GWAS Ctlgrs397516354
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 rs397516354(A;A) rs397516354(C;C)
Alt rs397516354(A;A) rs397516354(C;C)
Reference Rs397516354(G;G)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Dilated cardiomyopathy 1FF Dilated cardiomyopathy 2A Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Variation info
Gene TNNI3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Dilated cardiomyopathy 1FF Dilated cardiomyopathy 2A Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Reversed 1
HGVS NC_000019.9:g.55665462C>G; NC_000019.9:g.55665462C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000036301.3, RCV000159229.4, RCV000197981.4, RCV000208428.2, RCV000477941.1,