rs121918655, NR5A1

N. diseases: 5
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.
PREMATURE OVARIAN FAILURE 7 (disorder)
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
9 0.851 0.200 9 124493143 missense variant C/T snv 0.800 1.000 1 2009 2009
46,XY Sex Reversal 3
CUI: C3489793
Disease: 46,XY Sex Reversal 3
20 0.851 0.200 9 124493143 missense variant C/T snv 0.700 0
Adrenal gland hypofunction
CUI: C0001623
Disease: Adrenal gland hypofunction
10 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010
Gonadal Dysgenesis
CUI: C0018051
Disease: Gonadal Dysgenesis
6 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010