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: rs1085307685
rs1085307685
AR
0.925 0.160 X 67717552 missense variant A/G snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs1085307685
rs1085307685
AR
0.925 0.160 X 67717552 missense variant A/G snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004