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rs794729301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729301(C;T)
Make rs794729301(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178549309
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs794729301
dbSNP (classic)rs794729301
ClinGenrs794729301
ebirs794729301
HLIrs794729301
Exacrs794729301
Gnomadrs794729301
Varsomers794729301
LitVarrs794729301
Maprs794729301
PheGenIrs794729301
Biobankrs794729301
1000 genomesrs794729301
hgdprs794729301
ensemblrs794729301
geneviewrs794729301
scholarrs794729301
googlers794729301
pharmgkbrs794729301
gwascentralrs794729301
openSNPrs794729301
23andMers794729301
SNPshotrs794729301
SNPdbers794729301
MSV3drs794729301
GWAS Ctlgrs794729301
Max Magnitude0
ClinVar
Risk rs794729301(T;T)
Alt rs794729301(T;T)
Reference Rs794729301(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN not provided Limb-girdle muscular dystrophy, type 2J
Reversed 1
HGVS NC_000002.11:g.179414036G>A
CLNSRC
CLNACC RCV000184281.1, RCV000261510.1,