DisGeNET - a database of gene-disease associations

SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, C1849140

Variant: rs140551762 ×

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:

rs140551762

rs140551762

SACS

0.800

GeneticVariation

UNIPROT

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

2014

dbSNP:

rs140551762

rs140551762

SACS

T

0.800

GeneticVariation

CLINVAR