Gene: ABCA4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
0.060 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs1800553
rs1800553
ABCA4
0.060 GeneticVariation BEFREE Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration. 25921964

2015
dbSNP: rs1800553
rs1800553
ABCA4
0.060 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811

2007
dbSNP: rs1800553
rs1800553
ABCA4
0.060 GeneticVariation BEFREE This study did not find any statistically significant evidence for involvement of the G1961</span>E or D2177N alleles of the ABCA4 gene in AMD. 11346402

2001
dbSNP: rs1800553
rs1800553
ABCA4
0.060 GeneticVariation BEFREE The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers. 10880298

2000
dbSNP: rs1800553
rs1800553
ABCA4
0.060 GeneticVariation BEFREE G1961E has been associated previously, at a statistically significant level in the heterozygous state, with age-related macular degeneration (AMD). 9973280

1999
dbSNP: rs1800555
rs1800555
ABCA4
0.030 GeneticVariation BEFREE Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration. 25921964

2015
dbSNP: rs1800555
rs1800555
ABCA4
0.030 GeneticVariation BEFREE This study did not find any statistically significant evidence for involvement of the G1961E or D2177N alleles of the ABCA4 gene in AMD. 11346402

2001
dbSNP: rs1800555
rs1800555
ABCA4
0.030 GeneticVariation BEFREE The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers. 10880298

2000
dbSNP: rs768435443
rs768435443
ABCA4
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs752160946
rs752160946
ABCA4
0.010 GeneticVariation BEFREE 2633C>A (CC+CA) genotype, 5646G>A and 6389T>A polymorphisms of ABCA4 gene and smoking are susceptible factors for AMD, and the interactions of ABCA4 polymorphisms with smoking increased the risk of AMD. 26261643

2015
dbSNP: rs1800549
rs1800549
ABCA4
0.010 GeneticVariation BEFREE Sequencing of the PCR products revealed a heterozygous T1428M mutation which has been previously reported as one of the AMD associated mutations. 10216065

1999
dbSNP: rs61750120
rs61750120
ABCA4
0.010 GeneticVariation BEFREE The hypothesis that the Arg212Cys and Arg1107Cys ABCR gene mutations could be susceptibility factors for age-related macular degeneration is discussed. 10458172

1999
dbSNP: rs61750200
rs61750200
ABCA4
0.010 GeneticVariation BEFREE The hypothesis that the Arg212Cys and Arg1107Cys ABCR gene mutations could be susceptibility factors for age-related macular degeneration is discussed. 10458172

1999