DisGeNET - a database of gene-disease associations

Dystonia 6, torsion (disorder), C1414216

Variant: rs1563646198 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1563646198

THAP1

0.700

GeneticVariation

CLINVAR

Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.

26486352

2015

dbSNP:

rs1563646198

THAP1

0.700

GeneticVariation

CLINVAR

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

24976531

2014

dbSNP:

rs1563646198

THAP1

0.700

GeneticVariation

CLINVAR

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

19345147

2009