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: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.020 1.000 2 2006 2015
dbSNP: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases 		0.020 1.000 2 2003 2006
dbSNP: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2012 2012
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: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 1.000 1 2005 2005
dbSNP: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.010 1.000 1 2005 2005
dbSNP: rs1110061
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2006 2006