Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs641153
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.947 2 2007 2019
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.870 1.000 3 2010 2019
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.860 1.000 1 2006 2018
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.810 0.500 1 2010 2013
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.810 1.000 1 2008 2015
dbSNP: rs541862
rs541862
CFB ; CYP21A2
0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.810 1.000 1 2012 2013
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.800 1.000 1 2007 2015
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
0.882 0.240 6 31965384 intron variant G/A snv 0.19
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 1.000 1 2013 2013
dbSNP: rs4151657
rs4151657
CFB ; CYP21A2
0.925 0.160 6 31949763 non coding transcript exon variant T/C snv 0.27
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 1.000 1 2015 2015
dbSNP: rs494620
rs494620
CYP21A2 ; SLC44A4
0.925 0.120 6 31870936 stop gained G/A;T snv 0.44; 4.1E-06
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 1 2009 2009
dbSNP: rs522162
rs522162
CFB ; CYP21A2 ; NELFE
0.925 0.160 6 31952140 3 prime UTR variant T/C snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 1.000 1 2013 2013
dbSNP: rs558702
rs558702
C2 ; CYP21A2 ; ZBTB12
0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.800 1.000 1 2014 2014
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.800 1.000 1 2013 2013
dbSNP: rs9380272
rs9380272
C2 ; CYP21A2 ; C2-AS1
1.000 0.040 6 31938233 intron variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 1.000 1 2010 2010
dbSNP: rs641153
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.710 1.000 1 2012 2019
dbSNP: rs644045
rs644045
C2 ; CYP21A2
0.851 0.240 6 31916180 intron variant A/G snv 0.72
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.710 1.000 1 2017 2017
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.710 1.000 1 2012 2012
dbSNP: rs116503776
rs116503776
CYP21A2 ; SKIV2L
0.827 0.040 6 31962685 intron variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 2 2016 2018
dbSNP: rs2763981
rs2763981
CYP21A2 ; SLC44A4
6 31872244 intron variant T/A snv 0.79
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2019 2019
dbSNP: rs685031
rs685031
C2 ; CYP21A2
1.000 0.040 6 31913954 intron variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 2 2018 2018
dbSNP: rs1042663
rs1042663
C2 ; CYP21A2 ; C2-AS1
0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs114212579
rs114212579
CYP21A2 ; SKIV2L
1.000 0.080 6 31968280 non coding transcript exon variant G/T snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.700 1.000 1 2019 2019
dbSNP: rs114508013
rs114508013
C2 ; CYP21A2 ; ZBTB12
6 31900988 synonymous variant G/A snv 1.8E-02 1.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs114707880
rs114707880
CYP21A2 ; CYP21A1P
6 32004593 upstream gene variant G/C;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs115062572
rs115062572
CYP21A2 ; EHMT2
1.000 0.040 6 31895099 intron variant C/T snv 1.6E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.700 1.000 1 2019 2019