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: rs886041352
rs886041352
AR
0.925 0.160 X 67717618 missense variant A/C snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 0
dbSNP: rs1057521122
rs1057521122
AR
1.000 0.160 X 67722881 missense variant A/G snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs1085307685
rs1085307685
AR
0.925 0.160 X 67717552 missense variant A/G snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs1085307685
rs1085307685
AR
0.925 0.160 X 67717552 missense variant A/G snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs1355285524
rs1355285524
AR
1.000 0.160 X 67546480 missense variant A/G snv 1.8E-05 1.0E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 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: 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: 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: 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: rs137852582
rs137852582
AR
0.925 0.080 X 67723786 missense variant A/G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
dbSNP: rs142280455
rs142280455
AR
1.000 0.160 X 67686033 missense variant A/G snv 3.1E-04 3.8E-04
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 0
dbSNP: rs755226547
rs755226547
AR
1.000 0.160 X 67723737 missense variant A/G;T snv 1.3E-04; 5.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs141425171
rs141425171
AR
1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 0
dbSNP: rs137852595
rs137852595
AR
0.925 0.160 X 67711653 missense variant C/A;T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs138454018
rs138454018
AR
1.000 0.080 X 67546171 missense variant C/A;T snv 4.4E-05; 4.9E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
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: rs768869912
rs768869912
AR
1.000 0.160 X 67717488 missense variant C/G snv 1.1E-05
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
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: rs137852580
rs137852580
AR
0.925 0.080 X 67723711 missense variant C/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
dbSNP: rs773996740
rs773996740
AR
1.000 0.160 X 67546321 missense variant C/G;T snv 1.4E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 0
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: 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: rs137852588
rs137852588
AR
0.925 0.160 X 67643284 missense variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004