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: 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: rs116385615
rs116385615
C2 ; CYP21A2
1.000 0.040 6 31913532 intron variant T/C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs116385615
rs116385615
C2 ; CYP21A2
1.000 0.040 6 31913532 intron variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs116477171
rs116477171
C2 ; CYP21A2
6 31918153 intron variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs116477171
rs116477171
C2 ; CYP21A2
6 31918153 intron variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs116477171
rs116477171
C2 ; CYP21A2
6 31918153 intron variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3130683
rs3130683
C2 ; CYP21A2
1.000 0.040 6 31920590 intron variant C/T snv 0.91
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2017 2017
dbSNP: rs497309
rs497309
C2 ; CYP21A2
0.882 0.240 6 31924707 intron variant A/C;G snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.700 1.000 1 2019 2019
dbSNP: rs497309
rs497309
C2 ; CYP21A2
0.882 0.240 6 31924707 intron variant A/C;G snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.700 1.000 1 2019 2019
dbSNP: rs497309
rs497309
C2 ; CYP21A2
0.882 0.240 6 31924707 intron variant A/C;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs519417
rs519417
C2 ; CYP21A2
6 31910656 intron variant G/A snv 7.6E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs622871
rs622871
C2 ; CYP21A2
1.000 0.040 6 31910718 intron variant A/C;G snv
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs622871
rs622871
C2 ; CYP21A2
1.000 0.040 6 31910718 intron variant A/C;G snv
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		0.700 1.000 1 2018 2018
dbSNP: rs644045
rs644045
C2 ; CYP21A2
0.851 0.240 6 31916180 intron variant A/G snv 0.72
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
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: rs9267677
rs9267677
C2 ; CYP21A2
6 31924864 intron variant T/C snv 0.13
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 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: 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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.860 1.000 1 2006 2018
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: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.710 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