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: rs137852600
rs137852600
AR
0.925 0.160 X 67717535 missense variant G/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.810 1.000 21 1992 2004
dbSNP: rs137852600
rs137852600
AR
0.925 0.160 X 67717535 missense variant G/A;T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome
0.810 1.000 20 1992 2004