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rs397516484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516484(A;A)
Make rs397516484(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201359244
GeneTNNT2
is asnp
is mentioned by
dbSNPrs397516484
dbSNP (classic)rs397516484
ClinGenrs397516484
ebirs397516484
HLIrs397516484
Exacrs397516484
Gnomadrs397516484
Varsomers397516484
LitVarrs397516484
Maprs397516484
PheGenIrs397516484
Biobankrs397516484
1000 genomesrs397516484
hgdprs397516484
ensemblrs397516484
geneviewrs397516484
scholarrs397516484
googlers397516484
pharmgkbrs397516484
gwascentralrs397516484
openSNPrs397516484
23andMers397516484
SNPshotrs397516484
SNPdbers397516484
MSV3drs397516484
GWAS Ctlgrs397516484
Max Magnitude0
ClinVar
Risk rs397516484(A;A) rs397516484(C;C)
Alt rs397516484(A;A) rs397516484(C;C)
Reference Rs397516484(G;G)
Significance Pathogenic
Disease not specified not provided Familial hypertrophic cardiomyopathy 1
Variation info
Gene TNNT2
CLNDBN not specified not provided Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000001.10:g.201328372C>G; NC_000001.10:g.201328372C>T
CLNSRC
CLNACC RCV000154217.2, RCV000225728.1, RCV000036623.2, RCV000201870.1,