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rs397516471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516471(A;A)
Make rs397516471(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position201363348
GeneTNNT2
is asnp
is mentioned by
dbSNPrs397516471
dbSNP (classic)rs397516471
ClinGenrs397516471
ebirs397516471
HLIrs397516471
Exacrs397516471
Gnomadrs397516471
Varsomers397516471
LitVarrs397516471
Maprs397516471
PheGenIrs397516471
Biobankrs397516471
1000 genomesrs397516471
hgdprs397516471
ensemblrs397516471
geneviewrs397516471
scholarrs397516471
googlers397516471
pharmgkbrs397516471
gwascentralrs397516471
openSNPrs397516471
23andMers397516471
SNPshotrs397516471
SNPdbers397516471
MSV3drs397516471
GWAS Ctlgrs397516471
Max Magnitude0
ClinVar
Risk rs397516471(A;A)
Alt rs397516471(A;A)
Reference Rs397516471(G;G)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6
Reversed 1
HGVS NC_000001.10:g.201332476C>T
CLNSRC ClinVar
CLNACC RCV000036597.2, RCV000159340.3, RCV000233887.2,