DisGeNET - a database of gene-disease associations

rs62642574, ABCA4

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.

STARGARDT DISEASE 1 (disorder)

CUI:	C1855465
Disease:	STARGARDT DISEASE 1 (disorder)

317

1.000

1

94024994

missense variant

C/T

snv

1.1E-04

6.3E-05

0.800

1.000

1997

2017

Disorder of macula of retina

CUI:	C0730362
Disease:	Disorder of macula of retina

24

1.000

1

94024994

missense variant

C/T

snv

1.1E-04

6.3E-05

0.700