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: rs137852577
rs137852577
AR
0.882 0.200 X 67722898 missense variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.810 1.000 27 1992 2009
dbSNP: rs137852577
rs137852577
AR
0.882 0.200 X 67722898 missense variant C/T snv
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
0.700 1.000 8 1992 2009
dbSNP: rs137852577
rs137852577
AR
0.882 0.200 X 67722898 missense variant C/T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome
0.700 0