Source: GWASDB

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 3 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 5 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 2 2006 2018
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 2 2012 2013
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: 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: 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: rs1042663
rs1042663
C2 ; CYP21A2 ; C2-AS1
0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 1 2012 2012
dbSNP: rs438999
rs438999
CYP21A2 ; SKIV2L ; NELFE
0.925 0.160 6 31960529 missense variant A/G snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 1 2012 2012
dbSNP: rs544167
rs544167
C2 ; CYP21A2
0.925 0.160 6 31922381 intron variant T/G snv 7.3E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 1 2013 2013
dbSNP: rs550513
rs550513
CYP21A2 ; NELFE
0.925 0.160 6 31952910 intron variant C/T snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 1 2013 2013
dbSNP: rs550605
rs550605
C2 ; CYP21A2 ; C2-AS1
0.925 0.160 6 31939370 intron variant T/C snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 1 2012 2012