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rs797046060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs797046060(A;A)
Make rs797046060(A;GC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178719588
GeneTTN
is asnp
is mentioned by
dbSNPrs797046060
dbSNP (classic)rs797046060
ClinGenrs797046060
ebirs797046060
HLIrs797046060
Exacrs797046060
Gnomadrs797046060
Varsomers797046060
LitVarrs797046060
Maprs797046060
PheGenIrs797046060
Biobankrs797046060
1000 genomesrs797046060
hgdprs797046060
ensemblrs797046060
geneviewrs797046060
scholarrs797046060
googlers797046060
pharmgkbrs797046060
gwascentralrs797046060
openSNPrs797046060
23andMers797046060
SNPshotrs797046060
SNPdbers797046060
MSV3drs797046060
GWAS Ctlgrs797046060
Max Magnitude0
ClinVar
Risk rs797046060(A;A)
Alt rs797046060(A;A)
Reference Rs797046060(GC;GC)
Significance Pathogenic
Disease Myopathy
Variation info
Gene TTN
CLNDBN Myopathy
Reversed 1
HGVS NC_000002.11:g.179584315_179584316delGCinsT
CLNSRC
CLNACC RCV000193681.1,