Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755792
rs61755792
0.040 GeneticVariation BEFREE The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. 8747448

1995

dbSNP: rs61755792
rs61755792
0.040 GeneticVariation BEFREE One mutation in exon 1, R172W, has been described previously in other ethnic groups as causing a macular degeneration. 10193525

1998

dbSNP: rs1800553
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

dbSNP: rs1800549
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

dbSNP: rs61750120
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

dbSNP: rs61750200
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

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

2000

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

2000

dbSNP: rs1800553
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

dbSNP: rs1800555
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

dbSNP: rs121434491
rs121434491
0.090 GeneticVariation BEFREE Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration. 12427233

2002

dbSNP: rs150633473
rs150633473
0.010 GeneticVariation BEFREE Examination of the other AMD afflicted family members showed that the OPTC Arg229Cys variant did not segregate with the disorder within the family. 12019215

2002

dbSNP: rs3732378
rs3732378
0.090 GeneticVariation BEFREE Furthermore, lower CX3CR1 protein expression was observed in the maculae of AMD eyes bearing T/M280 compared with the controls bearing T/T280. 15208270

2004

dbSNP: rs3732379
rs3732379
0.080 GeneticVariation BEFREE Peripheral blood from 85 AMD patients and 105 subjects without AMD (controls), as well as ocular tissue from 40 pathological sections with AMD and two normal eye sections, were screened for V249I and T280M, two single nucleotide polymorphisms (SNPs) in CX3CR1. 15208270

2004

dbSNP: rs121434382
rs121434382
0.050 GeneticVariation BEFREE A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 affected members in the restricted group with AMD, 346 additional patients with AMD, and 237 unaffected controls. 14968411

2004

dbSNP: rs121434382
rs121434382
0.050 GeneticVariation BEFREE A rapid diagnostic assay will facilitate a reliable and convenient evaluation of the frequency of the Gln5345Arg mutation and its association with AMD within other populations. 15467524

2004

dbSNP: rs662
rs662
0.030 GeneticVariation BEFREE The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent. 15488805

2004

dbSNP: rs854560
rs854560
0.030 GeneticVariation BEFREE The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent. 15488805

2004

dbSNP: rs767830104
rs767830104
0.010 GeneticVariation BEFREE Peripheral blood from 85 AMD patients and 105 subjects without AMD (controls), as well as ocular tissue from 40 pathological sections with AMD and two normal eye sections, were screened for V249I and T280M, two single nucleotide polymorphisms (SNPs) in CX3CR1. 15208270

2004

dbSNP: rs1061170
rs1061170
CFH
0.900 GeneticVariation BEFREE We found association of eight common HF1 SNPs with AMD; two common missense variants exhibit highly significant associations (I62V, chi2 = 26.1 and P = 3.2 x 10(-7) and Y402H, chi2 = 54.4 and P = 1.6 x 10(-13)). 15870199

2005

dbSNP: rs1061170
rs1061170
CFH
0.900 GeneticVariation BEFREE These results suggest the contribution of the Y402H polymorphism of the CFH gene to exudative AMD susceptibility also in the French population. 16379025

2005

dbSNP: rs1061170
rs1061170
CFH
0.900 GeneticVariation BEFREE A Tyr402His variant in exon 9 in the complement factor H (CFH) gene was also significantly associated with ARM in the case-control allele (P<0.0001), case-control genotype (P<0.0001) and case-control family (P<0.0001) tests. 15930014

2005

dbSNP: rs1061170
rs1061170
CFH
0.900 GeneticVariation BEFREE These associations appear to be independent of the association of ARM with the Y402H allele of complement factor H, which has previously been reported as a major susceptibility factor for ARM. 16080115

2005

dbSNP: rs1061170
rs1061170
CFH
0.900 GeneticVariation BEFREE Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD. 15761121

2005

dbSNP: rs1061170
rs1061170
CFH
0.900 GeneticVariation BEFREE DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. 15761120

2005