DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinal Dystrophies ×

Gene: CEP290 ×

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:

rs386834158

rs386834158

CEP290

0.851

0.280

12

88077790

frameshift variant

T/-

delins

2.2E-05

7.0E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

1.000

2007

2007

dbSNP:

rs137852832

rs137852832

CEP290

0.716

0.280

12

88077263

stop gained

C/A

snv

9.5E-05

6.3E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs371496675

rs371496675

CEP290

12

88117076

stop gained

A/T

snv

1.7E-05

1.4E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs747835249

rs747835249

CEP290

0.882

0.200

12

88114418

splice donor variant

CA/-

delins

2.0E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853361

rs878853361

CEP290

12

88083858

stop gained

G/A

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853362

rs878853362

CEP290

12

88093897

frameshift variant

TA/-

delins

4.0E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700