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rs80358234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
Make rs80358234(-;-)
Make rs80358234(-;AGAG)
ReferenceGRCh38 38.1/141
Chromosome9
Position129814034
GeneTOR1A
is asnp
is mentioned by
dbSNPrs80358234
ebirs80358234
HLIrs80358234
Exacrs80358234
Varsomers80358234
Maprs80358234
PheGenIrs80358234
hapmaprs80358234
1000 genomesrs80358234
hgdprs80358234
ensemblrs80358234
gopubmedrs80358234
geneviewrs80358234
scholarrs80358234
googlers80358234
pharmgkbrs80358234
gwascentralrs80358234
openSNPrs80358234
23andMers80358234
23andMe allrs80358234
SNP Nexus

SNPshotrs80358234
SNPdbers80358234
MSV3drs80358234
GWAS Ctlgrs80358234
Max Magnitude0
ClinVar
Risk rs80358234(;)
Alt rs80358234(;)
Reference rs80358234(AGAG;AGAG)
Significance Pathogenic
Disease Dystonia 1
Variation info
Gene TOR1A
CLNDBN Dystonia 1
Reversed 1
HGVS NC_000009.11:g.132576313_132576316delCTCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020123.1,


[PMID 14872019] Mutations in DYT1: extension of the phenotypic and mutational spectrum.