Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE Collectively, we demonstrated that the complement factor B genes rs641153 and rs4151667, but not rs1048709, rs2072633, rs12614, were associated with the susceptibility of age-related macular degeneration and might play predictive roles in future age-related macular degeneration diagnosis. 30974970 2019
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE Here we describe a novel complotype composed of CFB (rs4151667)-CFB (rs641153)-CFH (rs800292), which is strongly associated with both AMD disease status (p = 5.84*10(-13)) and complement activation levels in vivo (p = 8.31*10(-9)). 27241480 2016
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE The risk allele frequency for rs9332739 in C2 (AMD, 0.65%, control, 2.03%) and rs4151667 in CFB (AMD, 0.65%, control, 1.78%) was very low. 22273503 2012
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE Our meta-analysis indicated strong protective effects of the variant alleles of four SNPs in CFB/C2 gene (rs9332739, rs547154, rs4151667, and rs641153) against AMD. 22440158 2012
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE The G allele of the C3 IVS2 rs2250656, but not other tested C3 SNPs of rs2230205, rs10411506, rs2230199, rs339392, and rs163913, was significantly associated with a reduced risk for AMD in the Chinese population (OR 0.605, 95% CI 0.39-0.93, p = 0.023), even after adjusting for age, gender, smoking status, CFH rs1061170, CFB rs4151667, and CFB rs641153 allele status (OR 0.58, 95% CI 0.35-0.96, p = 0.033). 19899988 2009
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), rs1048709 (R150R), rs4151659 (K565E), or rs2072633 (IVS17) in the BF gene. 18806293 2009
dbSNP: rs4151667
rs4151667
Entrez Id: 629;1589
Gene Symbol: CFB;CYP21A2
CFB;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration
0.070 GeneticVariation BEFREE We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L region in a Japanese population, genotyping 13 single nucleotide polymorphisms (SNPs) spanning this region, including rs9332739 (E318D), rs547154, rs4151667 (L9H), and rs641153 (R32Q) that are known to be associated with age-related macular degeneration (AMD). 19556007 2009