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rs397516358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516358(C;C)
Make rs397516358(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position55151888
GeneTNNI3
is asnp
is mentioned by
dbSNPrs397516358
dbSNP (classic)rs397516358
ClinGenrs397516358
ebirs397516358
HLIrs397516358
Exacrs397516358
Gnomadrs397516358
Varsomers397516358
LitVarrs397516358
Maprs397516358
PheGenIrs397516358
Biobankrs397516358
1000 genomesrs397516358
hgdprs397516358
ensemblrs397516358
geneviewrs397516358
scholarrs397516358
googlers397516358
pharmgkbrs397516358
gwascentralrs397516358
openSNPrs397516358
23andMers397516358
SNPshotrs397516358
SNPdbers397516358
MSV3drs397516358
GWAS Ctlgrs397516358
Max Magnitude0
ClinVar
Risk rs397516358(C;C) rs397516358(T;T)
Alt rs397516358(C;C) rs397516358(T;T)
Reference Rs397516358(G;G)
Significance Probable-Pathogenic
Disease not provided not specified Hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN not provided not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55663256C>A; NC_000019.9:g.55663256C>G
CLNSRC
CLNACC RCV000159244.2, RCV000036307.2, RCV000234031.1,