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: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2011 2011
dbSNP: rs1064794281
rs1064794281
NR5A1
0.925 0.120 9 124500125 missense variant A/T snv
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2011 2011
dbSNP: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2012 2012
dbSNP: rs1110062
rs1110062
NR5A1
0.925 0.120 9 124500585 synonymous variant C/A;T snv 2.2E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2012 2012
dbSNP: rs745564225
rs745564225
NR5A1
0.925 0.120 9 124493110 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2015 2015