DisGeNET - a database of gene-disease associations

Cockayne Syndrome, Type I, C0751039

Variant: rs1131691783 ×

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:

rs1131691783

rs1131691783

ERCC8 ; ERCC8-AS1

1

1.000

0.160

5

60918367

frameshift variant

TCT/CA

delins

0.700

1.000

2016

2016