DisGeNET - a database of gene-disease associations

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, C4015505

Source: ALL

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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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs368143665

rs368143665

GRID2

1

1.000

4

93110889

missense variant

G/A

snv

8.0E-06

1.4E-05

0.700

dbSNP:

rs750331613

rs750331613

GRID2

5

0.882

0.040

4

93515346

missense variant

C/T

snv

4.8E-05

2.1E-05

0.700