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