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: rs754201976
rs754201976
AR
0.925 0.160 X 67686088 missense variant G/A snv 5.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.800 1.000 20 1992 2004
dbSNP: rs754201976
rs754201976
AR
0.925 0.160 X 67686088 missense variant G/A snv 5.5E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome
0.700 1.000 20 1992 2004