DisGeNET - a database of gene-disease associations

Age related macular degeneration, C0242383

Variant: rs572515 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs572515

CFH

0.710

GeneticVariation

GWASDB

Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

23577725

2013

dbSNP:

rs572515

CFH

0.710

GeneticVariation

GWASDB

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

23326517

2013

dbSNP:

rs572515

CFH

0.710

GeneticVariation

GWASDB

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

20861866

2010

dbSNP:

rs572515

CFH

0.710

GeneticVariation

BEFREE

Of these variants, single SNP analysis revealed that CFH rs572515 was the most significantly associated with AMD risk (P < 10-6).

18541031

2008