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: 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: 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: 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: rs768768839
rs768768839
POMC
0.807 0.280 2 25161679 missense variant G/A snv 5.6E-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 2008 2008
dbSNP: rs56149945
rs56149945
NR3C1
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-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 2006 2006
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: 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: rs72552758
rs72552758
CYP21A2 ; TNXB
0.882 0.200 6 32040919 missense variant G/A snv 1.5E-05 3.5E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 21 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: 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: 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: 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: 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: rs574370139
rs574370139
CYP21A2
1.000 0.200 6 32040536 missense variant G/A snv 1.7E-04 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: 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: rs72552750
rs72552750
CYP21A2
1.000 0.200 6 32039175 missense variant G/A snv 2.6E-05 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: 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: rs72552756
rs72552756
CYP21A2 ; TNXB
1.000 0.200 6 32040692 missense variant G/C snv 8.4E-06 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: 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