Source: ALL

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: rs122445099
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.700 0
dbSNP: rs1565286228
rs1565286228
MYRF
0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.700 0
dbSNP: rs267602852
rs267602852
WT1
0.827 0.160 11 32417631 missense variant G/A snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.700 0
dbSNP: rs767978562
rs767978562
FREM2
0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.700 0
dbSNP: rs137852592
rs137852592
AR
0.925 0.160 X 67721937 missense variant T/C snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.020 1.000 2 1999 2002
dbSNP: rs104894061
rs104894061
CYP11B1 ; GML
0.882 0.200 8 142876242 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 1999 1999
dbSNP: rs104894136
rs104894136
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.882 0.200 10 102834074 stop gained G/A snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 1992 1992
dbSNP: rs104894137
rs104894137
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.882 0.200 10 102832626 missense variant G/T snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 1992 1992
dbSNP: rs137852567
rs137852567
AR
0.882 0.200 X 67717595 missense variant A/G snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 1995 1995
dbSNP: rs142647336
rs142647336
HSD3B1
1.000 0.160 1 119514302 missense variant C/A;T snv 4.0E-05 1.0E-04
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 2000 2000
dbSNP: rs1800053
rs1800053
AR
0.851 0.160 X 67711453 missense variant C/A snv 1.1E-03 1.2E-03
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 2006 2006
dbSNP: rs2234584
rs2234584
WT1
0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 2004 2004
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 2008 2008