Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1030467767
rs1030467767
CYP21A2
0.882 0.200 6 32038538 missense variant A/C;T snv 8.6E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 1.000 1 2011 2011
dbSNP: rs1057868
rs1057868
POR
0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 < 0.001 1 2008 2008
dbSNP: rs1061622
rs1061622
TNFRSF1B
0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 1.000 1 2009 2009
dbSNP: rs111647200
rs111647200
CYP21A2 ; CYP21A1P
1.000 0.200 6 32007071 non coding transcript exon variant A/G;T snv 1.4E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs1205703563
rs1205703563
TXNRD1
0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs1296268275
rs1296268275
CYP21A2
1.000 0.200 6 32039142 missense variant C/A;T snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs1330554738
rs1330554738
CYP21A2
0.925 0.200 6 32040562 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs1333278223
rs1333278223
CYP21A2
1.000 0.200 6 32038752 missense variant T/C snv 7.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs1370167869
rs1370167869
CYP21A2 ; TNXB
1.000 0.200 6 32040925 missense variant C/T snv 1.5E-05 4.9E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs1413433421
rs1413433421
CYP21A2
1.000 0.200 6 32038591 missense variant G/A snv 6.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs1429901248
rs1429901248
CYP21A2 ; TNXB
1.000 0.200 6 32040685 missense variant T/A;C;G snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs143240527
rs143240527
CYP21A2
1.000 0.200 6 32039593 missense variant A/G;T snv 4.9E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs151344503
rs151344503
CYP21A2 ; TNXB
1.000 0.200 6 32040766 stop gained G/A snv 4.2E-06 1.4E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs151344504
rs151344504
CYP21A2 ; TNXB
0.925 0.240 6 32040926 missense variant G/A snv 7.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs1554304513
rs1554304513
CYP21A2
1.000 0.200 6 32038793 missense variant A/G snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs1554305880
rs1554305880
CYP21A2
1.000 0.200 6 32040584 missense variant G/A snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs1801278
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 1.000 1 2009 2009
dbSNP: rs184649564
rs184649564
CYP21A2 ; TNXB
1.000 0.200 6 32041085 missense variant G/A;T snv 1.9E-05; 4.9E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs200005406
rs200005406
CYP21A2 ; TNXB
0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 1993 1993
dbSNP: rs201552310
rs201552310
CYP21A2
0.925 0.200 6 32040140 missense variant G/A;C snv 4.1E-06; 8.1E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 1.000 20 1985 2016
dbSNP: rs202242769
rs202242769
CYP21A2 ; TNXB
0.925 0.240 6 32040723 missense variant G/A;C snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 2 2007 2011
dbSNP: rs267606756
rs267606756
CYP21A2
1.000 0.200 6 32040182 frameshift variant -/T delins
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs267606757
rs267606757
CYP21A2
0.882 0.200 6 32039162 missense variant A/C snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 2008 2008
dbSNP: rs387906510
rs387906510
CYP21A2
1.000 0.200 6 32039133 frameshift variant GAGACTAC/- del
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 5 1994 2014
dbSNP: rs397509367
rs397509367
CYP21A2 ; TNXB
0.882 0.200 6 32041097 frameshift variant GG/C delins
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 1993 1993