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: rs387906510
rs387906510
CYP21A2
1 1.000 0.200 6 32039133 frameshift variant GAGACTAC/- del 0.700 1.000 5 1994 2014
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: 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: 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: rs786204728
rs786204728
CYP21A2
1 1.000 0.200 6 32039807 missense variant TCGTGGAGAT/ACGAGGAGAA mnv 0.700 1.000 4 1988 2013
dbSNP: rs905880501
rs905880501
HSD3B2
5 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs202242769
rs202242769
CYP21A2 ; TNXB
2 0.925 0.240 6 32040723 missense variant G/A;C snv 0.700 1.000 2 2007 2011
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: 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: 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: 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
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
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: 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 0.710 1.000 1 1997 1997
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: 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: 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