rs1567053134, CYP11A1

N. diseases: 8
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.
Adrenal hypoplasia
CUI: C1846223
Disease: Adrenal hypoplasia
1 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
CUI: C3151055
Disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
8 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
Decreased circulating cortisol level
CUI: C1836623
Disease: Decreased circulating cortisol level
2 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
Fetal ascites
CUI: C1285291
Disease: Fetal ascites
2 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
Hyponatremia
CUI: C0020625
Disease: Hyponatremia
11 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
Serum creatinine raised
CUI: C0700225
Disease: Serum creatinine raised
2 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0