DisGeNET - a database of gene-disease associations

CEROID LIPOFUSCINOSIS, NEURONAL, 8, C1838570

Variant: rs386834124 ×

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

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:

rs386834124

rs386834124

CLN8

4

0.925

0.120

8

1771263

missense variant

G/A

snv

2.8E-05

1.4E-05

0.800

1.000

2004

2016