DisGeNET - a database of gene-disease associations

rs200946638, RHO

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.

Retinitis Pigmentosa

CUI:	C0035334
Disease:	Retinitis Pigmentosa

541

0.925

0.080

3

129528786

missense variant

G/A;C

snv

8.0E-05; 8.0E-06

0.710

1.000

2019

2019

Retinitis Pigmentosa 4

CUI:	C3151001
Disease:	Retinitis Pigmentosa 4

44

0.925

0.080

3

129528786

missense variant

G/A;C

snv

8.0E-05; 8.0E-06

0.700