Gene: CYP21A2 ×
Source: CLINVAR ×
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 14 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 5 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 0 1985 2016
dbSNP: rs7755898
rs7755898
CYP21A2
1 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.740 1.000 4 1988 2013
dbSNP: rs9378251
rs9378251
CYP21A2
1 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.730 1.000 6 1991 2013
dbSNP: rs6471
rs6471
CYP21A2
4 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.720 1.000 9 1990 2013
dbSNP: rs6475
rs6475
CYP21A2
2 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.720 1.000 7 1988 2017
dbSNP: rs267606757
rs267606757
CYP21A2
1 0.882 0.200 6 32039162 missense variant A/C snv 0.710 1.000 0 2008 2008
dbSNP: rs397509367
rs397509367
CYP21A2 ; TNXB
1 0.882 0.200 6 32041097 frameshift variant GG/C delins 0.710 1.000 0 1993 1993
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
1 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.710 1.000 0 1997 1997
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: rs6467
rs6467
CYP21A2
2 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: rs202242769
rs202242769
CYP21A2 ; TNXB
1 0.925 0.240 6 32040723 missense variant G/A;C snv 0.700 1.000 2 2007 2011
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: rs267606756
rs267606756
CYP21A2
1 1.000 0.200 6 32040182 frameshift variant -/T delins 0.700 0
dbSNP: rs886038207
rs886038207
CYP21A2
2 0.925 0.200 6 32038580 frameshift variant TC/- delins 0.700 0