Source: CURATED

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: rs1555996863
rs1555996863
AR
0.925 0.200 X 67717600 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 29 1992 2016
dbSNP: rs1555996863
rs1555996863
AR
0.925 0.200 X 67717600 missense variant G/A snv
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.700 1.000 10 1992 2016