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rs397516463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs397516463(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position201364369
GeneTNNT2
is asnp
is mentioned by
dbSNPrs397516463
dbSNP (old)rs397516463
ClinGenrs397516463
ebirs397516463
HLIrs397516463
Exacrs397516463
Gnomadrs397516463
Varsomers397516463
Maprs397516463
PheGenIrs397516463
Biobankrs397516463
1000 genomesrs397516463
hgdprs397516463
ensemblrs397516463
gopubmedrs397516463
geneviewrs397516463
scholarrs397516463
googlers397516463
pharmgkbrs397516463
gwascentralrs397516463
openSNPrs397516463
23andMers397516463
23andMe allrs397516463
SNP Nexus

SNPshotrs397516463
SNPdbers397516463
MSV3drs397516463
GWAS Ctlgrs397516463
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 rs397516463(T;T)
Alt rs397516463(T;T)
Reference Rs397516463(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2
Variation info
Gene TNNT2
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2
Reversed 1
HGVS NC_000001.10:g.201333497G>A
CLNSRC ClinVar
CLNACC RCV000036583.3, RCV000159290.2, RCV000243733.1, RCV000468121.1,