rs6688832, H6PD

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CORTISONE REDUCTASE DEFICIENCY 1
CUI: C3551716
Disease: CORTISONE REDUCTASE DEFICIENCY 1
6 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.700 0
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.040 0.750 4 2005 2008
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
363 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.030 1.000 3 2005 2015
Cortisone reductase deficiency
CUI: C1291245
Disease: Cortisone reductase deficiency
2 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2005 2007
Hyperandrogenism
CUI: C0206081
Disease: Hyperandrogenism
24 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2012 2015
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
591 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2011 2019
Obesity
CUI: C0028754
Disease: Obesity
1111 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2012 2019
Dementia
CUI: C0497327
Disease: Dementia
176 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.010 1.000 1 2007 2007
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.010 1.000 1 2011 2011
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.010 1.000 1 2007 2007