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: 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: rs1330554738
rs1330554738
CYP21A2
2 0.925 0.200 6 32040562 missense variant C/T snv 4.0E-06 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
dbSNP: rs886038207
rs886038207
CYP21A2
2 0.925 0.200 6 32038580 frameshift variant TC/- delins 0.700 0
dbSNP: rs957886272
rs957886272
CYP21A2
1 1.000 0.200 6 32039124 missense variant T/A;G snv 4.1E-06 0.700 0
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: rs397509367
rs397509367
CYP21A2 ; TNXB
3 0.882 0.200 6 32041097 frameshift variant GG/C delins 0.710 1.000 1 1993 1993
dbSNP: rs779791105
rs779791105
CYP21A2 ; TNXB
3 0.882 0.200 6 32041092 frameshift variant -/C delins 4.5E-06 0.010 1.000 1 1993 1993
dbSNP: rs6467
rs6467
CYP21A2
3 0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03 0.700 1.000 3 1988 1994
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: 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: 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: 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: rs267606757
rs267606757
CYP21A2
3 0.882 0.200 6 32039162 missense variant A/C snv 0.710 1.000 1 2008 2008