ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Macular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730292
Disease:
Macular dystrophy 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0730292
Disease:
Macular dystrophy 		G 0.700 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005