DisGeNET - a database of gene-disease associations

Cockayne Syndrome, Type II, C0751038

Variant: rs786205168 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786205168

rs786205168

ERCC6

G

0.700

CausalMutation

CLINVAR

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

1998

dbSNP:

rs786205168

rs786205168

ERCC6

G

0.700

GeneticVariation

CLINVAR