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: 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: 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: 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: 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: 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: rs772317717
rs772317717
CYP21A2
1 1.000 0.200 6 32039443 missense variant G/A snv 0.700 1.000 20 1985 2016
dbSNP: rs781074931
rs781074931
CYP21A2
1 1.000 0.200 6 32040574 missense variant C/A;T snv 4.1E-06; 6.1E-05 0.700 1.000 20 1985 2016
dbSNP: rs387906510
rs387906510
CYP21A2
1 1.000 0.200 6 32039133 frameshift variant GAGACTAC/- del 0.700 1.000 5 1994 2014
dbSNP: rs786204728
rs786204728
CYP21A2
1 1.000 0.200 6 32039807 missense variant TCGTGGAGAT/ACGAGGAGAA mnv 0.700 1.000 4 1988 2013
dbSNP: rs111647200
rs111647200
CYP21A2 ; CYP21A1P
1 1.000 0.200 6 32007071 non coding transcript exon variant A/G;T snv 1.4E-05 0.700 0
dbSNP: rs1333278223
rs1333278223
CYP21A2
1 1.000 0.200 6 32038752 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1413433421
rs1413433421
CYP21A2
1 1.000 0.200 6 32038591 missense variant G/A snv 6.0E-06 0.700 0
dbSNP: rs1429901248
rs1429901248
CYP21A2 ; TNXB
1 1.000 0.200 6 32040685 missense variant T/A;C;G snv 0.700 0
dbSNP: rs151344503
rs151344503
CYP21A2 ; TNXB
1 1.000 0.200 6 32040766 stop gained G/A snv 4.2E-06 1.4E-05 0.700 0
dbSNP: rs1554304513
rs1554304513
CYP21A2
1 1.000 0.200 6 32038793 missense variant A/G snv 0.700 0
dbSNP: rs1554305880
rs1554305880
CYP21A2
1 1.000 0.200 6 32040584 missense variant G/A snv 0.700 0
dbSNP: rs184649564
rs184649564
CYP21A2 ; TNXB
1 1.000 0.200 6 32041085 missense variant G/A;T snv 1.9E-05; 4.9E-03 0.700 0
dbSNP: rs267606756
rs267606756
CYP21A2
1 1.000 0.200 6 32040182 frameshift variant -/T delins 0.700 0
dbSNP: rs750337015
rs750337015
CYP21A2
1 1.000 0.200 6 32040051 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs765001985
rs765001985
CYP21A2
1 1.000 0.200 6 32040167 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs767333157
rs767333157
CYP21A2 ; TNXB
1 1.000 0.200 6 32040952 missense variant C/T snv 2.1E-03 7.3E-04 0.700 0
dbSNP: rs772900496
rs772900496
CYP21A2
1 1.000 0.200 6 32040529 missense variant C/T snv 2.1E-05 0.700 0