Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894119
rs104894119
NR5A1
0.807 0.160 9 124500685 missense variant C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		0.800 1.000 9 1999 2017
dbSNP: rs104894119
rs104894119
NR5A1
0.807 0.160 9 124500685 missense variant C/T snv
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		0.800 1.000 4 2016 2017
dbSNP: rs104894119
rs104894119
NR5A1
0.807 0.160 9 124500685 missense variant C/T snv
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		0.700 1.000 2 2000 2016