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: 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: rs1254203917
rs1254203917
AR
1.000 0.160 X 67721881 missense variant G/T snv 5.5E-06
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: rs137852572
rs137852572
AR
0.925 0.160 X 67721838 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs137852574
rs137852574
AR
0.925 0.160 X 67723688 missense variant T/G snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs137852587
rs137852587
AR
0.925 0.160 X 67643387 missense variant T/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
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
dbSNP: rs137852589
rs137852589
AR
0.925 0.160 X 67721857 missense variant G/A;T snv 5.5E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein 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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
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: rs139524801
rs139524801
AR
0.925 0.160 X 67643283 missense variant G/A;T snv 1.8E-04
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
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: rs1555982864
rs1555982864
AR
1.000 0.160 X 67643344 missense variant G/T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs1555998105
rs1555998105
AR
1.000 0.160 X 67723774 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs201934623
rs201934623
AR
0.925 0.160 X 67546320 missense variant C/T snv 4.5E-03 2.0E-03
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs754201976
rs754201976
AR
0.925 0.160 X 67686088 missense variant G/A snv 5.5E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004
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: 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: 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: rs9332970
rs9332970
AR
1.000 0.160 X 67722905 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.700 1.000 20 1992 2004
dbSNP: rs1064793480
rs1064793480
AR
1.000 0.160 X 67721934 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 0
dbSNP: rs1340026226
rs1340026226
AR
1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0