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: rs1386577803
rs1386577803
AR
0.851 0.240 X 67722872 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.720 0.800 5 1990 2019
dbSNP: rs1386577803
rs1386577803
AR
0.851 0.240 X 67722872 missense variant G/A snv
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.700 1.000 4 1990 2010
dbSNP: rs1386577803
rs1386577803
AR
0.851 0.240 X 67722872 missense variant G/A snv
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.010 < 0.001 1 2019 2019
dbSNP: rs1386577803
rs1386577803
AR
0.851 0.240 X 67722872 missense variant G/A snv
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		0.010 < 0.001 1 2019 2019