DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Age related macular degeneration ×

Variant: rs854560 ×

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:

rs854560

PON1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

Association of paraoxonase 1 L55M and Q192R single-nucleotide polymorphisms with age-related macular degeneration.

23538572

2013

dbSNP:

rs854560

PON1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

We report a weak association of PON1 Leu55Met with an increased risk of wet AMD, replicating previous reports.

20042177

2010

dbSNP:

rs854560

PON1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent.

15488805

2004