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: rs7769409
rs7769409
CYP21A2
0.882 0.200 6 32040535 missense variant C/T snv 7.0E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.810 1.000 26 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: 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: 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: rs63749090
rs63749090
CYP21A2
0.851 0.280 6 32038468 missense variant G/A snv 2.1E-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: 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: 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: rs7755898
rs7755898
CYP21A2
0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.740 1.000 7 1988 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: 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: 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
dbSNP: rs905880501
rs905880501
HSD3B2
0.827 0.200 1 119422501 stop gained C/T snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: rs772900496
rs772900496
CYP21A2
1.000 0.200 6 32040529 missense variant C/T snv 2.1E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs886038207
rs886038207
CYP21A2
0.925 0.200 6 32038580 frameshift variant TC/- delins
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: 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