Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		G 0.900 GeneticVariation GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644

2018
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988

2016
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASCAT Seven new loci associated with age-related macular degeneration. 23455636

2013
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636

2013
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344

2012
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASCAT Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819

2010
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASCAT Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866

2010
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 GeneticVariation GWASDB Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826

2010
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASDB Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819

2010
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.900 GeneticVariation GWASDB Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866

2010
dbSNP: rs2230199
rs2230199
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 GeneticVariation GWASCAT Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826

2010
dbSNP: rs121909583
rs121909583
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133

2010
dbSNP: rs121909583
rs121909583
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824

2010
dbSNP: rs121909583
rs121909583
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853

2009
dbSNP: rs121909583
rs121909583
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626

2008
dbSNP: rs121909583
rs121909583
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909584
rs121909584
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133

2010
dbSNP: rs121909584
rs121909584
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824

2010
dbSNP: rs121909584
rs121909584
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853

2009
dbSNP: rs121909584
rs121909584
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626

2008
dbSNP: rs121909584
rs121909584
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909585
rs121909585
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133

2010
dbSNP: rs121909585
rs121909585
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824

2010