Source: GWASDB

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.870 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636

2013
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.870 GeneticVariation GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956

2012
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.870 GeneticVariation GWASDB Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 21909106

2011
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		G 0.870 GeneticVariation GWASDB Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819

2010
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.870 GeneticVariation GWASDB Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866

2010
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 GeneticVariation GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725

2013
dbSNP: rs34241101
rs34241101
CYP21A2 ; SKIV2L
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs34241101
rs34241101
CYP21A2 ; SKIV2L
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs34241101
rs34241101
CYP21A2 ; SKIV2L
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs34241101
rs34241101
CYP21A2 ; SKIV2L
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs401775
rs401775
CYP21A2 ; SKIV2L
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs401775
rs401775
CYP21A2 ; SKIV2L
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs401775
rs401775
CYP21A2 ; SKIV2L
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs401775
rs401775
CYP21A2 ; SKIV2L
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598

2010
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761

2011
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088

2009
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs419788
rs419788
CYP21A2 ; SKIV2L ; NELFE
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761

2011
dbSNP: rs437179
rs437179
CYP21A2 ; SKIV2L
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.700 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463

2014
dbSNP: rs437179
rs437179
CYP21A2 ; SKIV2L
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 GeneticVariation GWASDB Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis. 20598377

2010
dbSNP: rs437179
rs437179
CYP21A2 ; SKIV2L
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088

2009
dbSNP: rs437179
rs437179
CYP21A2 ; SKIV2L
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007
dbSNP: rs438999
rs438999
CYP21A2 ; SKIV2L ; NELFE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 GeneticVariation GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956

2012
dbSNP: rs438999
rs438999
CYP21A2 ; SKIV2L ; NELFE
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761

2011