Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922538
rs193922538
CYP11B1 ; GML
2 0.925 0.200 8 142879689 missense variant G/A snv 9.9E-05 7.7E-05 0.700 0
dbSNP: rs193922539
rs193922539
CYP11B1 ; GML
2 0.925 0.200 8 142879163 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs193922540
rs193922540
CYP11B1 ; GML
1 1.000 0.200 8 142877205 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs193922541
rs193922541
CYP11B1 ; GML
1 1.000 0.200 8 142876680 splice donor variant A/G snv 0.700 0
dbSNP: rs61752786
rs61752786
CYP11B1 ; GML
1 1.000 0.200 8 142875713 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.7E-02 0.700 0
dbSNP: rs886038207
rs886038207
CYP21A2
2 0.925 0.200 6 32038580 frameshift variant TC/- delins 0.700 0
dbSNP: rs6475
rs6475
CYP21A2
7 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.030 1.000 3 1991 2019
dbSNP: rs1312209092
rs1312209092
CYP21A2 ; TNXB
2 0.925 0.240 6 32041068 missense variant G/A snv 0.020 1.000 2 2006 2015
dbSNP: rs7755898
rs7755898
CYP21A2
5 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.020 1.000 2 2009 2017
dbSNP: rs9378251
rs9378251
CYP21A2
8 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.020 1.000 2 2003 2019
dbSNP: rs104894070
rs104894070
CYP11B1 ; GML
3 0.882 0.200 8 142879146 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104894071
rs104894071
CYP11B1 ; GML
3 0.882 0.200 8 142875730 missense variant G/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121912976
rs121912976
POR
3 0.882 0.240 7 75985795 missense variant G/A;C snv 3.4E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs1245238711
rs1245238711
CYP21A2 ; TNXB
2 0.925 0.240 6 32040940 missense variant G/A snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1268081568
rs1268081568
PPIG
2 0.925 0.240 2 169636546 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1330554738
rs1330554738
CYP21A2
2 0.925 0.200 6 32040562 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1351141519
rs1351141519
POMC
3 0.882 0.200 2 25161718 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs151344505
rs151344505
CYP21A2
3 0.882 0.240 6 32040179 missense variant G/A snv 1.1E-04 9.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs200005406
rs200005406
CYP21A2 ; TNXB
4 0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04 0.010 1.000 1 1998 1998
dbSNP: rs200737258
rs200737258
AR
4 0.882 0.240 X 67711476 missense variant G/A snv 2.1E-03 1.1E-03 0.010 1.000 1 2002 2002
dbSNP: rs5282
rs5282
CYP11B1 ; GML
3 0.882 0.200 8 142879627 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs61758594
rs61758594
CYP11B2
3 0.882 0.200 8 142917654 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs63749090
rs63749090
CYP21A2
4 0.851 0.280 6 32038468 missense variant G/A snv 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
5 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.010 1.000 1 2002 2002
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 2007 2007