rs201340156, NR5A1

N. diseases: 3
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.
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
176 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016
Gonadal Dysgenesis
CUI: C0018051
Disease: Gonadal Dysgenesis
6 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016