DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs550605, C2;CYP21A2;C2-AS1

N. diseases: 2

Disease: Age related macular degeneration ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Age related macular degeneration

CUI:	C0242383
Disease:	Age related macular degeneration

0.700

GeneticVariation

GWASDB

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

22694956

2012