Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517779
rs1057517779
NR5A1
0.851 0.160 9 124493083 missense variant G/A snv
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.700 1.000 6 2011 2016
dbSNP: rs1057517779
rs1057517779
NR5A1
0.851 0.160 9 124493083 missense variant G/A snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.700 1.000 6 2011 2016
dbSNP: rs1057517779
rs1057517779
NR5A1
0.851 0.160 9 124493083 missense variant G/A snv
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2011 2011
dbSNP: rs1057517779
rs1057517779
NR5A1
0.851 0.160 9 124493083 missense variant G/A snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2011 2011