rs606231207, 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 124500570 frameshift variant C/- del 0.700 0
PREMATURE OVARIAN FAILURE 7 (disorder)
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
9 0.925 0.160 9 124500570 frameshift variant C/- del 0.700 0