DisGeNET - a database of gene-disease associations

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, C3150998

Variant: rs387907089 ×

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:

rs387907089

ANO10

0.800

GeneticVariation

UNIPROT

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

21092923

2010

dbSNP:

rs387907089

ANO10

0.800

CausalMutation

CLINVAR