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: 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: 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: 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: 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: rs2293751
rs2293751
C2 ; CYP21A2 ; C2-AS1
1.000 0.040 6 31940060 intron variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs2293751
rs2293751
C2 ; CYP21A2 ; C2-AS1
1.000 0.040 6 31940060 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs572361305
rs572361305
C2 ; CYP21A2 ; C2-AS1
6 31934289 splice donor variant GTGGACAGGGTCAGGAATCAGGAGTCTG/- delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs78593564
rs78593564
C2 ; CYP21A2 ; C2-AS1
6 31939051 intron variant G/A snv 1.9E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 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: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.700 1.000 1 2012 2012
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: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		0.700 1.000 1 2012 2012