DisGeNET - a database of gene-disease associations

rs1563329888, RP1

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Retinal Dystrophies

CUI:	C0854723
Disease:	Retinal Dystrophies

227

1.000

0.080

8

54625333

stop gained

C/A

snv

0.700

1.000

2019

2019

RETINITIS PIGMENTOSA 1

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

21

1.000

0.080

8

54625333

stop gained

C/A

snv

0.700