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: rs776989258
rs776989258
CYP21A2 ; TNXB
6 0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04 0.820 1.000 34 1985 2016
dbSNP: rs7769409
rs7769409
CYP21A2
3 0.882 0.200 6 32040535 missense variant C/T snv 7.0E-05 0.810 1.000 26 1985 2016
dbSNP: rs201552310
rs201552310
CYP21A2
2 0.925 0.200 6 32040140 missense variant G/A;C snv 4.1E-06; 8.1E-06 0.800 1.000 20 1985 2016
dbSNP: rs7755898
rs7755898
CYP21A2
5 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.740 1.000 7 1988 2013
dbSNP: rs9378251
rs9378251
CYP21A2
8 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.730 1.000 9 1991 2013
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.720 1.000 11 1990 2013
dbSNP: rs6475
rs6475
CYP21A2
7 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.720 1.000 9 1988 2017
dbSNP: rs72552758
rs72552758
CYP21A2 ; TNXB
3 0.882 0.200 6 32040919 missense variant G/A snv 1.5E-05 3.5E-05 0.710 1.000 21 1985 2016
dbSNP: rs547552654
rs547552654
CYP21A2
3 0.882 0.200 6 32039165 missense variant A/C snv 0.710 1.000 20 1985 2016
dbSNP: rs550051210
rs550051210
CYP21A2
3 0.882 0.200 6 32039118 missense variant C/A;T snv 7.0E-05 0.710 1.000 20 1985 2016
dbSNP: rs200005406
rs200005406
CYP21A2 ; TNXB
4 0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04 0.710 1.000 1 1993 1993
dbSNP: rs267606757
rs267606757
CYP21A2
3 0.882 0.200 6 32039162 missense variant A/C snv 0.710 1.000 1 2008 2008
dbSNP: rs397509367
rs397509367
CYP21A2 ; TNXB
3 0.882 0.200 6 32041097 frameshift variant GG/C delins 0.710 1.000 1 1993 1993
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
5 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.710 1.000 1 1997 1997
dbSNP: rs9378252
rs9378252
CYP21A2
3 0.882 0.200 6 32038610 missense variant A/G;T snv 4.4E-02 0.710 1.000 1 2008 2008
dbSNP: rs1296268275
rs1296268275
CYP21A2
1 1.000 0.200 6 32039142 missense variant C/A;T snv 0.700 1.000 20 1985 2016
dbSNP: rs1370167869
rs1370167869
CYP21A2 ; TNXB
1 1.000 0.200 6 32040925 missense variant C/T snv 1.5E-05 4.9E-05 0.700 1.000 20 1985 2016
dbSNP: rs143240527
rs143240527
CYP21A2
1 1.000 0.200 6 32039593 missense variant A/G;T snv 4.9E-04 0.700 1.000 20 1985 2016
dbSNP: rs151344504
rs151344504
CYP21A2 ; TNXB
2 0.925 0.240 6 32040926 missense variant G/A snv 7.0E-06 0.700 1.000 20 1985 2016
dbSNP: rs574370139
rs574370139
CYP21A2
1 1.000 0.200 6 32040536 missense variant G/A snv 1.7E-04 4.9E-05 0.700 1.000 20 1985 2016
dbSNP: rs63749090
rs63749090
CYP21A2
4 0.851 0.280 6 32038468 missense variant G/A snv 2.1E-05 0.700 1.000 20 1985 2016
dbSNP: rs72552750
rs72552750
CYP21A2
1 1.000 0.200 6 32039175 missense variant G/A snv 2.6E-05 1.4E-05 0.700 1.000 20 1985 2016
dbSNP: rs72552751
rs72552751
CYP21A2
2 0.925 0.200 6 32039444 missense variant G/C snv 0.700 1.000 20 1985 2016
dbSNP: rs72552754
rs72552754
CYP21A2
2 0.925 0.200 6 32040485 missense variant G/A snv 4.0E-06 0.700 1.000 20 1985 2016
dbSNP: rs72552755
rs72552755
CYP21A2
2 0.925 0.200 6 32040490 missense variant C/G;T snv 5.2E-05 0.700 1.000 20 1985 2016