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: 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: 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: 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