rs104894124, NR5A1

N. diseases: 2
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 0.925 0.160 9 124503353 missense variant C/T snv 0.800 1.000 9 1999 2017
Premature Menopause
CUI: C0025322
Disease: Premature Menopause
90 0.925 0.160 9 124503353 missense variant C/T snv 0.010 1.000 1 2020 2020