rs371701248, 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.
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.882 0.160 9 124491156 missense variant C/T snv 1.3E-04 5.6E-05 0.010 1.000 1 2007 2007
Penis agenesis
CUI: C1387005
Disease: Penis agenesis
11 0.882 0.160 9 124491156 missense variant C/T snv 1.3E-04 5.6E-05 0.010 1.000 1 2007 2007
Testicular regression syndrome
CUI: C0266427
Disease: Testicular regression syndrome
3 0.882 0.160 9 124491156 missense variant C/T snv 1.3E-04 5.6E-05 0.010 1.000 1 2007 2007