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rs543860009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs543860009(G;T)
Make rs543860009(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178589003
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs543860009
dbSNP (classic)rs543860009
ClinGenrs543860009
ebirs543860009
HLIrs543860009
Exacrs543860009
Gnomadrs543860009
Varsomers543860009
LitVarrs543860009
Maprs543860009
PheGenIrs543860009
Biobankrs543860009
1000 genomesrs543860009
hgdprs543860009
ensemblrs543860009
geneviewrs543860009
scholarrs543860009
googlers543860009
pharmgkbrs543860009
gwascentralrs543860009
openSNPrs543860009
23andMers543860009
SNPshotrs543860009
SNPdbers543860009
MSV3drs543860009
GWAS Ctlgrs543860009
Max Magnitude0
ClinVar
Risk rs543860009(A;A) rs543860009(T;T)
Alt rs543860009(A;A) rs543860009(T;T)
Reference Rs543860009(G;G)
Significance Probable-Pathogenic
Disease Congenital myopathy not provided
Variation info
Gene TTN TTN-AS1
CLNDBN Congenital myopathy not provided
Reversed 0
HGVS NC_000002.11:g.179453730G>A
CLNSRC
CLNACC RCV000230182.1, RCV000424753.1,