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rs878854372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878854372(-;-)
Make rs878854372(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178527121
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs878854372
dbSNP (classic)rs878854372
ClinGenrs878854372
ebirs878854372
HLIrs878854372
Exacrs878854372
Gnomadrs878854372
Varsomers878854372
LitVarrs878854372
Maprs878854372
PheGenIrs878854372
Biobankrs878854372
1000 genomesrs878854372
hgdprs878854372
ensemblrs878854372
geneviewrs878854372
scholarrs878854372
googlers878854372
pharmgkbrs878854372
gwascentralrs878854372
openSNPrs878854372
23andMers878854372
SNPshotrs878854372
SNPdbers878854372
MSV3drs878854372
GWAS Ctlgrs878854372
Max Magnitude0
ClinVar
Risk rs878854372(-;-)
Alt rs878854372(-;-)
Reference Rs878854372(T;T)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.179391848delA
CLNSRC
CLNACC RCV000228738.1,