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: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		0.800 1.000 4 2016 2017
dbSNP: rs886039769
rs886039769
NR5A1
0.807 0.160 9 124500686 missense variant G/A snv
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		0.800 1.000 4 2016 2017