Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518822
rs1057518822
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs111033272
rs111033272
USH2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852834
rs137852834
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs142285818
rs142285818
RHO
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs376493409
rs376493409
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs539612316
rs539612316
ALMS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs61750654
rs61750654
ABCA4
A 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882241
rs730882241
ARV1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs753611141
rs753611141
PMPCA
A 0.700 CausalMutation CLINVAR

dbSNP: rs768643552
rs768643552
PMPCA
A 0.700 CausalMutation CLINVAR

dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
C 0.700 CausalMutation CLINVAR

dbSNP: rs886043303
rs886043303
CEP290
G 0.700 CausalMutation CLINVAR

dbSNP: rs1061170
rs1061170
CFH
0.050 GeneticVariation BEFREE Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1. 21930971

2011
dbSNP: rs1061170
rs1061170
CFH
0.050 GeneticVariation BEFREE The Y402H polymorphism within the seventh short consensus repeat of FH was recently shown to be associated with age-related macular degeneration, the most common cause of irreversible blindness in the Western world. 17339482

2007
dbSNP: rs1061170
rs1061170
CFH
0.050 GeneticVariation BEFREE The common variant in the human complement Factor H gene (CFH), with Tyr402His, is linked to age-related macular degeneration (AMD), a prevalent disorder leading to visual impairment and irreversible blindness in elderly patients. 17399790

2007
dbSNP: rs1061170
rs1061170
CFH
0.050 GeneticVariation BEFREE We tested the hypothesis that modifiable lifestyle factors alter the genetic susceptibility associated with a common coding variant in the complement factor H (CFH) gene, Y402H, for the leading cause of blindness among the elderly, age-related macular degeneration (AMD). 16816528

2006
dbSNP: rs1061170
rs1061170
CFH
0.050 GeneticVariation BEFREE Using a large sample of cases and controls from a single center, we show that a T-->C substitution in exon 9 (Y402H) of the complement factor H gene is strongly associated with susceptibility to age-related macular degeneration, the most common cause of blindness in the elderly. 15895326

2005
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
0.020 GeneticVariation BEFREE The polymorphism rs10490924 (A69S) in the age-related maculopathy susceptibility 2 (ARMS2) gene is highly associated with age-related macular degeneration, which is the leading cause of blindness among the elderly population. 29316486

2018
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
0.020 GeneticVariation BEFREE The polymorphism rs10490924 (A69S) in the age-related maculopathy susceptibility 2 (ARMS2) gene is highly associated with age-related macular degeneration, which is the leading cause of blindness among the elderly population. 28915445

2017