rs80358234

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AGAG;AGAG)	0	common in clinvar

Make rs80358234(-;-)

Make rs80358234(-;AGAG)

Reference

GRCh38 38.1/141

Chromosome

9

Position

129814034

Gene

TOR1A

is a	snp
is	mentioned by
dbSNP	rs80358234
dbSNP (classic)	rs80358234
ClinGen	rs80358234
ebi	rs80358234
HLI	rs80358234
Exac	rs80358234
Gnomad	rs80358234
Varsome	rs80358234
LitVar	rs80358234
Map	rs80358234
PheGenI	rs80358234
Biobank	rs80358234
1000 genomes	rs80358234
hgdp	rs80358234
ensembl	rs80358234
geneview	rs80358234
scholar	rs80358234
google	rs80358234
pharmgkb	rs80358234
gwascentral	rs80358234
openSNP	rs80358234
23andMe	rs80358234
SNPshot	rs80358234
SNPdbe	rs80358234
MSV3d	rs80358234
GWAS Ctlg	rs80358234

Max Magnitude

0

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.