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: 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: 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: rs137852573
rs137852573
AR
0.807 0.280 X 67686064 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
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: 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: rs137852576
rs137852576
AR
0.827 0.240 X 67686067 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.710 1.000 20 1992 2004
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.800 0
dbSNP: rs137852576
rs137852576
AR
0.827 0.240 X 67686067 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs137852578
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.800 1.000 0 2002 2015
dbSNP: rs137852593
rs137852593
AR
0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.740 1.000 0 2000 2004
dbSNP: rs137852591
rs137852591
AR
0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
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: 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: rs137852591
rs137852591
AR
0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
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: 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: rs143040492
rs143040492
AR
0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs886041133
rs886041133
AR
0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 1.000 20 1992 2014
dbSNP: rs886041133
rs886041133
AR
0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs137852567
rs137852567
AR
0.882 0.200 X 67717595 missense variant A/G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
dbSNP: rs137852571
rs137852571
AR
0.882 0.080 X 67717495 missense variant G/A snv 7.7E-05 1.9E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.710 1.000 0 2003 2003
dbSNP: rs137852581
rs137852581
AR
0.882 0.080 X 67723701 missense variant C/T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.720 1.000 0 1997 2007
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: rs864622007
rs864622007
AR
0.882 0.200 X 67711621 missense variant T/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 0