rs886039769, NR5A1

N. diseases: 10
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 0.807 0.160 9 124500686 missense variant G/A snv 0.800 1.000 8 1999 2017
46,XX SEX REVERSAL 4
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
2 0.807 0.160 9 124500686 missense variant G/A snv 0.800 1.000 4 2016 2017
Disorders of Sex Development
CUI: C0036875
Disease: Disorders of Sex Development
6 0.807 0.160 9 124500686 missense variant G/A snv 0.030 1.000 3 2017 2019
Testicular Diseases
CUI: C0039584
Disease: Testicular Diseases
1 0.807 0.160 9 124500686 missense variant G/A snv 0.030 1.000 3 2017 2019
Ovotesticular Disorders of Sex Development
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
3 0.807 0.160 9 124500686 missense variant G/A snv 0.020 1.000 2 2017 2019
Sex Differentiation Disorders
CUI: C2930619
Disease: Sex Differentiation Disorders
10 0.807 0.160 9 124500686 missense variant G/A snv 0.020 1.000 2 2017 2019
46, XX Disorders of Sex Development
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
1 0.807 0.160 9 124500686 missense variant G/A snv 0.010 1.000 1 2017 2017
46, XX Testicular Disorders of Sex Development
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
1 0.807 0.160 9 124500686 missense variant G/A snv 0.010 1.000 1 2019 2019
Oligospermia
CUI: C0028960
Disease: Oligospermia
72 0.807 0.160 9 124500686 missense variant G/A snv 0.010 1.000 1 2017 2017
Ovotesticular Differences of Sex Development
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
2 0.807 0.160 9 124500686 missense variant G/A snv 0.010 1.000 1 2017 2017