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: rs200390780
rs200390780
AR
1.000 0.160 X 67546570 missense variant C/T snv 1.5E-03 1.1E-03
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs372903533
rs372903533
AR
0.925 0.200 X 67711599 missense variant C/T snv 5.5E-06 9.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 1.000 1 2014 2014
dbSNP: rs886041352
rs886041352
AR
0.925 0.160 X 67717618 missense variant A/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs968098233
rs968098233
AR
0.882 0.200 X 67546162 missense variant T/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 1.000 1 2005 2005
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
dbSNP: rs137852563
rs137852563
AR
1.000 0.160 X 67711673 stop gained G/A snv 5.7E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852566
rs137852566
AR
1.000 0.160 X 67686012 stop gained A/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852568
rs137852568
AR
1.000 0.160 X 67723728 stop gained A/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852575
rs137852575
AR
1.000 0.160 X 67545324 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852594
rs137852594
AR
1.000 0.160 X 67723745 synonymous variant C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852595
rs137852595
AR
0.925 0.160 X 67711653 missense variant C/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852596
rs137852596
AR
1.000 0.160 X 67643371 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs137852599
rs137852599
AR
1.000 0.160 X 67711585 missense variant A/C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1481151440
rs1481151440
AR
1.000 0.160 X 67545467 stop gained C/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969512
rs1555969512
AR
1.000 0.160 X 67545360 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969545
rs1555969545
AR
1.000 0.160 X 67545414 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969553
rs1555969553
AR
0.925 0.200 X 67545438 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969682
rs1555969682
AR
1.000 0.160 X 67545889 missense variant G/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969684
rs1555969684
AR
0.925 0.200 X 67545892 frameshift variant -/G delins
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969694
rs1555969694
AR
1.000 0.160 X 67545936 frameshift variant -/G delins
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555969807
rs1555969807
AR
1.000 0.160 X 67546331 stop gained C/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555970004
rs1555970004
AR
0.925 0.200 X 67546581 frameshift variant -/C delins
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0
dbSNP: rs1555982860
rs1555982860
AR
1.000 0.160 X 67643327 missense variant G/A snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.700 0