DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Age related macular degeneration ×

Variant: rs1800555 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1800555

ABCA4

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.

25921964

2015

dbSNP:

rs1800555

ABCA4

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

This study did not find any statistically significant evidence for involvement of the G1961E or D2177N alleles of the ABCA4 gene in AMD.

11346402

2001

dbSNP:

rs1800555

ABCA4

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers.

10880298

2000