DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs1043679457 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0728829
Disease:	Congenital pes cavus

Congenital pes cavus

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0751837
Disease:	Gait Ataxia

Gait Ataxia

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0003079
Disease:	Anisocoria

Anisocoria

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0026351
Disease:	Moderate intellectual disability

Moderate intellectual disability

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0554970
Disease:	Pallor of optic disc

Pallor of optic disc

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C1857644
Disease:	Retinal pigment epithelial mottling

Retinal pigment epithelial mottling

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0007758
Disease:	Cerebellar Ataxia

Cerebellar Ataxia

0.700

dbSNP:

rs1043679457

rs1043679457

ERCC8

0.752

0.400

5

60927745

intron variant

C/A;G;T

snv

CUI:	C0013362
Disease:	Dysarthria

Dysarthria

0.700