Source: BEFREE

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: rs28934586
rs28934586
CYP11B1 ; GML
0.827 0.200 8 142875012 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.040 1.000 4 1991 2010
dbSNP: rs1206627543
rs1206627543
CYP11B2 ; GML
0.925 0.200 8 142912592 missense variant C/T snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2017 2017
dbSNP: rs1245981952
rs1245981952
CYP11B1 ; GML
0.925 0.200 8 142879623 missense variant A/G snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2016 2016
dbSNP: rs1311444460
rs1311444460
CYP11B2 ; GML
0.925 0.200 8 142912585 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 1991 1991
dbSNP: rs1348178413
rs1348178413
CYP11B2 ; GML
0.925 0.200 8 142912570 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2017 2017
dbSNP: rs140336749
rs140336749
CYP11B1 ; GML
0.925 0.200 8 142877191 missense variant G/A snv 1.6E-04 3.5E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs1447069098
rs1447069098
CYP11B1 ; GML
0.882 0.240 8 142874997 missense variant C/T snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2017 2017
dbSNP: rs146124466
rs146124466
CYP11B1 ; GML
0.882 0.200 8 142875767 stop gained G/A snv 5.6E-05 3.1E-04
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2010 2010
dbSNP: rs149881706
rs149881706
CYP11B1 ; GML
0.925 0.200 8 142875838 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs387907572
rs387907572
CYP11B1 ; GML
0.851 0.240 8 142876278 missense variant G/A snv 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs387907573
rs387907573
CYP11B1 ; GML
0.925 0.200 8 142876299 missense variant A/G;T snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs387907574
rs387907574
CYP11B1 ; GML
0.925 0.200 8 142876267 missense variant C/T snv
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs5282
rs5282
CYP11B1 ; GML
0.882 0.200 8 142879627 missense variant C/G snv 2.4E-05 1.4E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2016 2016
dbSNP: rs568758408
rs568758408
CYP21A2
0.925 0.200 6 32040183 missense variant T/C snv 4.1E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs61758594
rs61758594
CYP11B2
0.882 0.200 8 142917654 missense variant G/C snv 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2016 2016
dbSNP: rs775479837
rs775479837
CYP11B1 ; GML
0.925 0.200 8 142877197 stop gained G/A snv 8.0E-06 2.8E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2016 2016
dbSNP: rs104894136
rs104894136
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.882 0.200 10 102834074 stop gained G/A snv
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.020 1.000 2 1992 2016
dbSNP: rs104894137
rs104894137
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.882 0.200 10 102832626 missense variant G/T snv
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 1992 1992
dbSNP: rs104894138
rs104894138
CYP17A1
0.882 0.240 10 102837076 missense variant G/A snv 2.8E-05 4.9E-05
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 2010 2010
dbSNP: rs104894141
rs104894141
CYP17A1
1.000 10 102837311 stop gained C/T snv
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 1998 1998
dbSNP: rs104894142
rs104894142
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.882 0.200 10 102832566 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 2010 2010
dbSNP: rs1250463562
rs1250463562
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.925 0.200 10 102830743 missense variant G/A snv
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 1992 1992
dbSNP: rs1269372676
rs1269372676
CYP17A1 ; WBP1L ; CYP17A1-AS1
1.000 10 102830905 missense variant A/G snv 7.0E-06
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 2011 2011
dbSNP: rs760695410
rs760695410
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.807 0.240 10 102832532 missense variant T/A snv 1.2E-05; 4.0E-06
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs119481075
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.710 1.000 1 2012 2012