Source: BEFREE

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: rs886039769
rs886039769
NR5A1
0.807 0.160 9 124500686 missense variant G/A snv
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		0.030 1.000 3 2017 2019
dbSNP: rs886039769
rs886039769
NR5A1
0.807 0.160 9 124500686 missense variant G/A snv
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		0.030 1.000 3 2017 2019
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: rs886039769
rs886039769
NR5A1
0.807 0.160 9 124500686 missense variant G/A snv
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		0.020 1.000 2 2017 2019
dbSNP: rs886039769
rs886039769
NR5A1
0.807 0.160 9 124500686 missense variant G/A snv
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.020 1.000 2 2017 2019
dbSNP: rs104894118
rs104894118
NR5A1
0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.010 1.000 1 2000 2000
dbSNP: rs104894118
rs104894118
NR5A1
0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.010 1.000 1 2000 2000
dbSNP: rs104894119
rs104894119
NR5A1
0.807 0.160 9 124500685 missense variant C/T snv
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 1.000 1 2017 2017
dbSNP: rs104894119
rs104894119
NR5A1
0.807 0.160 9 124500685 missense variant C/T snv
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences of Sex Development 		0.010 1.000 1 2017 2017
dbSNP: rs104894119
rs104894119
NR5A1
0.807 0.160 9 124500685 missense variant C/T snv
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.010 1.000 1 2017 2017
dbSNP: rs104894124
rs104894124
NR5A1
0.925 0.160 9 124503353 missense variant C/T snv
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 1.000 1 2020 2020
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
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: rs1064794281
rs1064794281
NR5A1
0.925 0.120 9 124500125 missense variant A/T snv
CUI: C1691215
Disease: Penile hypospadias
Penile 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2006 2006
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: 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: C1387005
Disease: Penis agenesis
Penis agenesis 		0.010 1.000 1 2005 2005
dbSNP: rs1110062
rs1110062
NR5A1
0.925 0.120 9 124500585 synonymous variant C/A;T snv 2.2E-02
CUI: C1691215
Disease: Penile hypospadias
Penile 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: rs1213451480
rs1213451480
NR5A1
1.000 0.120 9 124500652 missense variant C/T snv
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		0.010 1.000 1 2014 2014
dbSNP: rs1213451480
rs1213451480
NR5A1
1.000 0.120 9 124500652 missense variant C/T snv
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 1.000 1 2014 2014