Gene: ABCA4 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
0.010 GeneticVariation BEFREE HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES. 31318848

2019
dbSNP: rs768435443
rs768435443
ABCA4
0.010 GeneticVariation BEFREE HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES. 31318848

2019
dbSNP: rs201471607
rs201471607
ABCA4
0.010 GeneticVariation BEFREE N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. 17982420

2007