DisGeNET - a database of gene-disease associations

CYP21A2, cytochrome P450 family 21 subfamily A member 2, 1589

N. diseases: 166; N. variants: 222

Disease: Age related macular degeneration ×

Variant: rs181705462 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs181705462

Entrez Id:	1589;8859
Gene Symbol:	CYP21A2;STK19

CYP21A2;STK19

CUI:	C0242383
Disease:

Age related macular degeneration

0.700

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016