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: rs6475
rs6475
CYP21A2
7 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.050 1.000 5 2005 2019
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.040 0.750 4 2007 2019
dbSNP: rs7755898
rs7755898
CYP21A2
5 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.040 1.000 4 2004 2019
dbSNP: rs9378251
rs9378251
CYP21A2
8 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.040 1.000 4 2005 2019
dbSNP: rs7769409
rs7769409
CYP21A2
3 0.882 0.200 6 32040535 missense variant C/T snv 7.0E-05 0.030 1.000 3 2005 2019
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
6 0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04 0.020 1.000 2 1997 2015
dbSNP: rs1030467767
rs1030467767
CYP21A2
3 0.882 0.200 6 32038538 missense variant A/C;T snv 8.6E-06 0.010 1.000 1 2011 2011
dbSNP: rs1057868
rs1057868
POR
9 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 < 0.001 1 2008 2008
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1205703563
rs1205703563
TXNRD1
3 0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12530380
rs12530380
CYP21A2
1 1.000 6 32039810 missense variant T/A snv 1.4E-05 0.010 1.000 1 2019 2019
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: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 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 1993 1993
dbSNP: rs267606757
rs267606757
CYP21A2
3 0.882 0.200 6 32039162 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs397509367
rs397509367
CYP21A2 ; TNXB
3 0.882 0.200 6 32041097 frameshift variant GG/C delins 0.010 1.000 1 1993 1993
dbSNP: rs547552654
rs547552654
CYP21A2
3 0.882 0.200 6 32039165 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs550051210
rs550051210
CYP21A2
3 0.882 0.200 6 32039118 missense variant C/A;T snv 7.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2006 2006
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 1997 1997
dbSNP: rs6476
rs6476
CYP21A2
1 1.000 6 32039816 missense variant T/A;C snv 1.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs72552758
rs72552758
CYP21A2 ; TNXB
3 0.882 0.200 6 32040919 missense variant G/A snv 1.5E-05 3.5E-05 0.010 1.000 1 1999 1999
dbSNP: rs749346869
rs749346869
CYP21A2
1 1.000 6 32038498 missense variant C/T snv 1.4E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs768153689
rs768153689
DMBT1
1 1.000 10 122598858 frameshift variant G/- delins 0.010 < 0.001 1 2020 2020
dbSNP: rs768768839
rs768768839
POMC
6 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2008 2008