Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 24
rs9378251
CYP21A2
0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 8
rs6475
CYP21A2
0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 7
rs776989258
CYP21A2 ; TNXB
0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04 6
rs6445
TNXB ; CYP21A2
0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 5
rs7755898
CYP21A2
0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 5
rs200005406
CYP21A2 ; TNXB
0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04 4
rs63749090
CYP21A2
0.851 0.280 6 32038468 missense variant G/A snv 2.1E-05 4
rs759736443
CYP21A2 ; TNXB
0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 7.0E-06 3
rs1330554738
CYP21A2
0.925 0.200 6 32040562 missense variant C/T snv 4.0E-06 1.4E-05 2
rs72552755
CYP21A2
0.925 0.200 6 32040490 missense variant C/G;T snv 5.2E-05 2
rs886038207
CYP21A2
0.925 0.200 6 32038580 frameshift variant TC/- delins 2