DisGeNET - a database of gene-disease associations

SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, C1849140

Variant: rs281865117 ×

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:

rs281865117

SACS

0.700

CausalMutation

CLINVAR

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

28658401

2017

dbSNP:

rs281865117

SACS

0.700

CausalMutation

CLINVAR

Diversity of ARSACS mutations in French-Canadians.

23250129

2013

dbSNP:

rs281865117

SACS

0.700

CausalMutation

CLINVAR

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

11788093

2001

dbSNP:

rs281865117

SACS

0.700

CausalMutation

CLINVAR

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

10655055

2000