DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Age related macular degeneration ×

Variant: rs662 ×

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:

rs662

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:

rs662

PON1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.030

GeneticVariation

BEFREE

The functional and biological mechanism by which Gln192Arg is acting to decrease AMD susc</span>eptibility remains to be determined.

20042177

2010

dbSNP:

rs662

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