rs1800553
|
|
|
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 |
rs1800553
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
|
25921964 |
2015 |
rs1800553
|
|
|
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 |
rs1800553
|
|
|
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 |
rs1800553
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers.
|
10880298 |
2000 |
rs1800553
|
|
|
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 |
rs1800555
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
|
25921964 |
2015 |
rs1800555
|
|
|
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 |
rs1800555
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers.
|
10880298 |
2000 |
rs768435443
|
|
|
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 |
rs752160946
|
|
|
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 |
rs1800549
|
|
|
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 |
rs61750120
|
|
|
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 |
rs61750200
|
|
|
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 |