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rs267607134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607134(A;A)
Make rs267607134(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position129818752
GeneTOR1A
is asnp
is mentioned by
dbSNPrs267607134
dbSNP (classic)rs267607134
ClinGenrs267607134
ebirs267607134
HLIrs267607134
Exacrs267607134
Gnomadrs267607134
Varsomers267607134
LitVarrs267607134
Maprs267607134
PheGenIrs267607134
Biobankrs267607134
1000 genomesrs267607134
hgdprs267607134
ensemblrs267607134
geneviewrs267607134
scholarrs267607134
googlers267607134
pharmgkbrs267607134
gwascentralrs267607134
openSNPrs267607134
23andMers267607134
SNPshotrs267607134
SNPdbers267607134
MSV3drs267607134
GWAS Ctlgrs267607134
Max Magnitude0
ClinVar
Risk rs267607134(A;A)
Alt rs267607134(A;A)
Reference Rs267607134(T;T)
Significance Pathogenic
Disease Dystonia 1 Dystonia 1 not provided
Variation info
Gene TOR1A
CLNDBN Dystonia 1, torsion, late-onset Dystonia 1 not provided
Reversed 1
HGVS NC_000009.11:g.132581031A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005491.4, RCV000258917.1, RCV000296896.2,