Gene: CYP21A2 ×
Source: UNIPROT ×
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
1 0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04 0.820 1.000 20 1985 2016
dbSNP: rs7769409
rs7769409
CYP21A2
1 0.882 0.200 6 32040535 missense variant C/T snv 7.0E-05 0.810 1.000 20 1985 2016
dbSNP: rs201552310
rs201552310
CYP21A2
1 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: rs547552654
rs547552654
CYP21A2
1 0.882 0.200 6 32039165 missense variant A/C snv 0.710 1.000 20 1985 2016
dbSNP: rs550051210
rs550051210
CYP21A2
1 0.882 0.200 6 32039118 missense variant C/A;T snv 7.0E-05 0.710 1.000 20 1985 2016
dbSNP: rs72552758
rs72552758
CYP21A2 ; TNXB
1 0.882 0.200 6 32040919 missense variant G/A snv 1.5E-05 3.5E-05 0.710 1.000 20 1985 2016
dbSNP: rs200005406
rs200005406
CYP21A2 ; TNXB
1 0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04 0.710 1.000 0 1993 1993
dbSNP: rs9378252
rs9378252
CYP21A2
1 0.882 0.200 6 32038610 missense variant A/G;T snv 4.4E-02 0.710 1.000 0 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
1 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
1 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
1 0.925 0.200 6 32039444 missense variant G/C snv 0.700 1.000 20 1985 2016
dbSNP: rs72552754
rs72552754
CYP21A2
1 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
1 0.925 0.200 6 32040490 missense variant C/G;T snv 5.2E-05 0.700 1.000 20 1985 2016
dbSNP: rs72552756
rs72552756
CYP21A2 ; TNXB
1 1.000 0.200 6 32040692 missense variant G/C snv 8.4E-06 2.1E-05 0.700 1.000 20 1985 2016
dbSNP: rs72552757
rs72552757
CYP21A2 ; TNXB
1 1.000 0.200 6 32040871 missense variant C/A;G;T snv 6.9E-06; 1.4E-05 0.700 1.000 20 1985 2016
dbSNP: rs747079101
rs747079101
CYP21A2
1 0.925 0.240 6 32040491 missense variant G/A;C snv 3.2E-05 0.700 1.000 20 1985 2016
dbSNP: rs755020999
rs755020999
CYP21A2 ; CYP21A1P
1 1.000 0.200 6 32006687 non coding transcript exon variant T/C snv 4.2E-06 0.700 1.000 20 1985 2016
dbSNP: rs759736443
rs759736443
CYP21A2 ; TNXB
1 0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 7.0E-06 0.700 1.000 20 1985 2016
dbSNP: rs760216630
rs760216630
CYP21A2
1 0.925 0.200 6 32040530 missense variant G/A snv 0.700 1.000 20 1985 2016
dbSNP: rs772317717
rs772317717
CYP21A2
1 1.000 0.200 6 32039443 missense variant G/A snv 0.700 1.000 20 1985 2016