rs121918654, NR5A1

N. diseases: 6
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 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.800 1.000 9 1999 2017
46, XY Disorders of Sex Development
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
10 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018
Addison Disease
CUI: C0001403
Disease: Addison Disease
13 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018
Adrenal gland hypofunction
CUI: C0001623
Disease: Adrenal gland hypofunction
10 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2003 2003
Disorders of Sex Development
CUI: C0036875
Disease: Disorders of Sex Development
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018
Primary Adrenal Insufficiency
CUI: C3887896
Disease: Primary Adrenal Insufficiency
2 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018