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rs397516848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516848(A;G)
Make rs397516848(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position52451403
GeneTNNC1
is asnp
is mentioned by
dbSNPrs397516848
dbSNP (classic)rs397516848
ClinGenrs397516848
ebirs397516848
HLIrs397516848
Exacrs397516848
Gnomadrs397516848
Varsomers397516848
LitVarrs397516848
Maprs397516848
PheGenIrs397516848
Biobankrs397516848
1000 genomesrs397516848
hgdprs397516848
ensemblrs397516848
geneviewrs397516848
scholarrs397516848
googlers397516848
pharmgkbrs397516848
gwascentralrs397516848
openSNPrs397516848
23andMers397516848
SNPshotrs397516848
SNPdbers397516848
MSV3drs397516848
GWAS Ctlgrs397516848
Max Magnitude0
ClinVar
Risk rs397516848(G;G)
Alt rs397516848(G;G)
Reference Rs397516848(A;A)
Significance Probable-Pathogenic
Disease not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1Z Familial hypertrophic cardiomyopathy 13
Variation info
Gene TNNC1
CLNDBN not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1Z Familial hypertrophic cardiomyopathy 13
Reversed 1
HGVS NC_000003.11:g.52485419T>C
CLNSRC
CLNACC RCV000037767.2, RCV000171845.2, RCV000457083.1,