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rs777162250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs777162250(C;T)
Make rs777162250(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165941053
GeneTTC21B, TTC21B-AS1
is asnp
is mentioned by
dbSNPrs777162250
dbSNP (classic)rs777162250
ClinGenrs777162250
ebirs777162250
HLIrs777162250
Exacrs777162250
Gnomadrs777162250
Varsomers777162250
LitVarrs777162250
Maprs777162250
PheGenIrs777162250
Biobankrs777162250
1000 genomesrs777162250
hgdprs777162250
ensemblrs777162250
geneviewrs777162250
scholarrs777162250
googlers777162250
pharmgkbrs777162250
gwascentralrs777162250
openSNPrs777162250
23andMers777162250
SNPshotrs777162250
SNPdbers777162250
MSV3drs777162250
GWAS Ctlgrs777162250
Max Magnitude0
ClinVar
Risk rs777162250(T;T)
Alt rs777162250(T;T)
Reference Rs777162250(C;C)
Significance Pathogenic
Disease Jeune thoracic dystrophy
Variation info
Gene TTC21B-AS1 TTC21B
CLNDBN Jeune thoracic dystrophy
Reversed 0
HGVS NC_000002.11:g.166797563C>T
CLNSRC
CLNACC RCV000198427.2,