DisGeNET - a database of gene-disease associations

Macular Degeneration, Age-Related, 2, C3495438

Variant: rs61750639 ×

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:

rs61750639

ABCA4

0.700

GeneticVariation

UNIPROT

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

19028736

2009

dbSNP:

rs61750639

ABCA4

0.700

GeneticVariation

UNIPROT

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

9295268

1997