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rs397516456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs397516456(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position201365298
GeneTNNT2
is asnp
is mentioned by
dbSNPrs397516456
dbSNP (old)rs397516456
ClinGenrs397516456
ebirs397516456
HLIrs397516456
Exacrs397516456
Gnomadrs397516456
Varsomers397516456
Maprs397516456
PheGenIrs397516456
Biobankrs397516456
1000 genomesrs397516456
hgdprs397516456
ensemblrs397516456
gopubmedrs397516456
geneviewrs397516456
scholarrs397516456
googlers397516456
pharmgkbrs397516456
gwascentralrs397516456
openSNPrs397516456
23andMers397516456
23andMe allrs397516456
SNP Nexus

SNPshotrs397516456
SNPdbers397516456
MSV3drs397516456
GWAS Ctlgrs397516456
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 rs397516456(T;T)
Alt rs397516456(T;T)
Reference Rs397516456(C;C)
Significance Other
Disease not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2
Variation info
Gene TNNT2
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2
Reversed 1
HGVS NC_000001.10:g.201334426G>A
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000159280.3, RCV000208103.2, RCV000474512.1,