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: 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: 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: 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: 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: 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: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 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: 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: 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: 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: 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: 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: 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: 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: 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: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.700 1.000 20 1992 2004