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rs397516451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516451(C;T)
Make rs397516451(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201365636
GeneTNNT2
is asnp
is mentioned by
dbSNPrs397516451
dbSNP (classic)rs397516451
ClinGenrs397516451
ebirs397516451
HLIrs397516451
Exacrs397516451
Gnomadrs397516451
Varsomers397516451
LitVarrs397516451
Maprs397516451
PheGenIrs397516451
Biobankrs397516451
1000 genomesrs397516451
hgdprs397516451
ensemblrs397516451
geneviewrs397516451
scholarrs397516451
googlers397516451
pharmgkbrs397516451
gwascentralrs397516451
openSNPrs397516451
23andMers397516451
SNPshotrs397516451
SNPdbers397516451
MSV3drs397516451
GWAS Ctlgrs397516451
Max Magnitude0
ClinVar
Risk rs397516451(A;A) rs397516451(T;T)
Alt rs397516451(A;A) rs397516451(T;T)
Reference Rs397516451(C;C)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 not provided
Variation info
Gene TNNT2
CLNDBN not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 not provided
Reversed 1
HGVS NC_000001.10:g.201334764G>A; NC_000001.10:g.201334764G>T
CLNSRC
CLNACC RCV000036565.2, RCV000204383.1, RCV000159273.2,