rs1057517779, NR5A1

N. diseases: 4
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.
46,XY Sex Reversal 3
CUI: C3489793
Disease: 46,XY Sex Reversal 3
20 0.851 0.160 9 124493083 missense variant G/A snv 0.700 1.000 6 2011 2016
Oligosynaptic Infertility
CUI: C0403810
Disease: Oligosynaptic Infertility
3 0.851 0.160 9 124493083 missense variant G/A snv 0.700 1.000 6 2011 2016
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011