rs143040492, AR

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
176 0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06 0.710 1.000 2 1996 2002
Reifenstein Syndrome
CUI: C0268301
Disease: Reifenstein Syndrome
35 0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06 0.700 1.000 20 1992 2004
Bulbo-Spinal Atrophy, X-Linked
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
30 0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06 0.700 1.000 1 1996 1996