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rs1060500589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
Make rs1060500589(AAT;TATA)
Make rs1060500589(TATA;TATA)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position178533817
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs1060500589
dbSNP (old)rs1060500589
ClinGenrs1060500589
ebirs1060500589
HLIrs1060500589
Exacrs1060500589
Gnomadrs1060500589
Varsomers1060500589
LitVarrs1060500589
Maprs1060500589
PheGenIrs1060500589
Biobankrs1060500589
1000 genomesrs1060500589
hgdprs1060500589
ensemblrs1060500589
gopubmedrs1060500589
geneviewrs1060500589
scholarrs1060500589
googlers1060500589
pharmgkbrs1060500589
gwascentralrs1060500589
openSNPrs1060500589
23andMers1060500589
23andMe allrs1060500589
SNPshotrs1060500589
SNPdbers1060500589
MSV3drs1060500589
GWAS Ctlgrs1060500589
Max Magnitude0
ClinVar
Risk rs1060500589(TATA;TATA)
Alt rs1060500589(TATA;TATA)
Reference Rs1060500589(AAT;AAT)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Limb-girdle muscular dystrophy, type 2J
Reversed 1
HGVS NC_000002.11:g.179398544_179398546delATTinsTATA
CLNSRC
CLNACC RCV000456387.1,