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: rs1386577803
rs1386577803
AR
0.851 0.240 X 67722872 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.720 0.800 5 1990 2019
dbSNP: rs137852587
rs137852587
AR
0.925 0.160 X 67643387 missense variant T/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.720 1.000 2 2004 2005
dbSNP: rs1555997625
rs1555997625
AR
1.000 0.160 X 67721951 missense variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.710 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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.710 1.000 2 1996 2002
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: 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: 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: 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: 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: 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: 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: rs1555996810
rs1555996810
AR
0.925 0.200 X 67717480 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 5 1995 2006
dbSNP: rs137852573
rs137852573
AR
0.807 0.280 X 67686064 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 4 1996 2006
dbSNP: rs886039558
rs886039558
AR
0.925 0.200 X 67717561 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 3 1999 2005
dbSNP: rs137852565
rs137852565
AR
0.925 0.200 X 67721905 stop gained G/A;C snv 5.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 2 1990 2015
dbSNP: rs1555990470
rs1555990470
AR
0.925 0.200 X 67686046 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 2 1994 2010
dbSNP: rs1555997580
rs1555997580
AR
0.925 0.200 X 67721873 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 2 1992 2016
dbSNP: rs1569314508
rs1569314508
AR
0.925 0.200 X 67717623 splice donor variant G/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 1.000 1 2010 2010
dbSNP: rs1057523747
rs1057523747
AR
1.000 0.160 X 67717562 missense variant G/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs112374098
rs112374098
AR
0.925 0.200 X 67545417 stop gained C/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1199988820
rs1199988820
AR
1.000 0.160 X 67545363 stop gained C/G;T snv 7.3E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0