Source: ALL

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: rs137852588
rs137852588
AR
0.925 0.160 X 67643284 missense variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs137852588
rs137852588
AR
0.925 0.160 X 67643284 missense variant C/T snv
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		0.700 0