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: rs776989258
rs776989258
CYP21A2 ; TNXB
0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.820 1.000 34 1985 2016
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: 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: 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: rs547552654
rs547552654
CYP21A2
0.882 0.200 6 32039165 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 20 1985 2016
dbSNP: rs550051210
rs550051210
CYP21A2
0.882 0.200 6 32039118 missense variant C/A;T snv 7.0E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 20 1985 2016
dbSNP: rs72552751
rs72552751
CYP21A2
0.925 0.200 6 32039444 missense variant G/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 20 1985 2016
dbSNP: rs72552754
rs72552754
CYP21A2
0.925 0.200 6 32040485 missense variant G/A snv 4.0E-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: rs72552755
rs72552755
CYP21A2
0.925 0.200 6 32040490 missense variant C/G;T snv 5.2E-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: rs72552757
rs72552757
CYP21A2 ; TNXB
1.000 0.200 6 32040871 missense variant C/A;G;T snv 6.9E-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 1.000 20 1985 2016
dbSNP: rs747079101
rs747079101
CYP21A2
0.925 0.240 6 32040491 missense variant G/A;C snv 3.2E-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: rs755020999
rs755020999
CYP21A2 ; CYP21A1P
1.000 0.200 6 32006687 non coding transcript exon variant T/C snv 4.2E-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: rs760216630
rs760216630
CYP21A2
0.925 0.200 6 32040530 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 1.000 20 1985 2016
dbSNP: rs772317717
rs772317717
CYP21A2
1.000 0.200 6 32039443 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 1.000 20 1985 2016
dbSNP: rs781074931
rs781074931
CYP21A2
1.000 0.200 6 32040574 missense variant C/A;T snv 4.1E-06; 6.1E-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: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 1.000 11 1990 2013
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: rs786204728
rs786204728
CYP21A2
1.000 0.200 6 32039807 missense variant TCGTGGAGAT/ACGAGGAGAA mnv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 4 1988 2013
dbSNP: rs6467
rs6467
CYP21A2
0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 3 1988 1994
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: 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: 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: 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: 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: 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