Source: UNIPROT

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: rs864622007
rs864622007
AR
0.882 0.200 X 67711621 missense variant T/A snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.830 1.000 0 2002 2010
dbSNP: rs9332969
rs9332969
AR
0.827 0.240 X 67722899 missense variant G/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.820 0.969 20 1992 2019
dbSNP: rs137852564
rs137852564
AR
0.827 0.240 X 67722976 missense variant G/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.810 1.000 20 1992 2016
dbSNP: rs137852573
rs137852573
AR
0.807 0.280 X 67686064 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.810 1.000 20 1992 2004
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 20 1992 2009
dbSNP: rs137852586
rs137852586
AR
1.000 0.160 X 67643378 missense variant G/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.810 1.000 20 1992 2005
dbSNP: rs137852591
rs137852591
AR
0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.810 1.000 20 1992 2010
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
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 20 1992 2004
dbSNP: rs886041132
rs886041132
AR
0.925 0.160 X 67722943 missense variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.810 0.952 20 1992 2004
dbSNP: rs9332971
rs9332971
AR
0.851 0.200 X 67722944 missense variant G/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.810 0.952 20 1992 2004
dbSNP: rs104894742
rs104894742
AR
1.000 0.160 X 67545150 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852562
rs137852562
AR
0.925 0.160 X 67721837 missense variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852564
rs137852564
AR
0.827 0.240 X 67722976 missense variant G/A;T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852567
rs137852567
AR
0.882 0.200 X 67717595 missense variant A/G snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852569
rs137852569
AR
0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2017
dbSNP: rs137852570
rs137852570
AR
1.000 0.160 X 67721876 missense variant A/G snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852572
rs137852572
AR
0.925 0.160 X 67721838 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852579
rs137852579
AR
1.000 0.160 X 67711549 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852585
rs137852585
AR
1.000 0.160 X 67711639 missense variant T/G snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852589
rs137852589
AR
0.925 0.160 X 67721857 missense variant G/A;T snv 5.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852592
rs137852592
AR
0.925 0.160 X 67721937 missense variant T/C snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852597
rs137852597
AR
1.000 0.160 X 67722973 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs137852598
rs137852598
AR
1.000 0.160 X 67722948 missense variant C/G;T snv 5.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004
dbSNP: rs1555990488
rs1555990488
AR
1.000 0.160 X 67686091 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2004