Source: CLINVAR

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 14 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 5 1985 2016
dbSNP: rs104893972
rs104893972
CYP21A2 ; NEU1
1.000 0.160 6 31862079 missense variant A/C snv
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.800 1.000 0 1996 2014
dbSNP: rs104893978
rs104893978
CYP21A2 ; NEU1
0.925 0.160 6 31860519 missense variant A/G snv 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.800 1.000 0 1996 2014
dbSNP: rs104893980
rs104893980
CYP21A2 ; NEU1
1.000 0.160 6 31860563 missense variant C/A;G;T snv 8.0E-06; 4.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.800 1.000 0 1996 2014
dbSNP: rs104893985
rs104893985
CYP21A2 ; NEU1
0.925 0.160 6 31862112 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.800 1.000 0 1996 2014
dbSNP: rs117905900
rs117905900
CFB ; CYP21A2
0.925 0.120 6 31948042 missense variant C/G;T snv 1.1E-02
CUI: C2752038
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 		0.800 1.000 0 2009 2010
dbSNP: rs121909748
rs121909748
CFB ; CYP21A2
0.925 0.120 6 31948443 missense variant A/G snv
CUI: C2752038
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 		0.800 1.000 0 2007 2010
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 0 1985 2016
dbSNP: rs281875237
rs281875237
CYP21A2 ; SKIV2L
1.000 6 31962012 missense variant T/G snv
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.800 1.000 0 2012 2012
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 4 1988 2013
dbSNP: rs9378251
rs9378251
CYP21A2
0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.730 1.000 6 1991 2013
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 9 1990 2013
dbSNP: rs6475
rs6475
CYP21A2
0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 1.000 7 1988 2017
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.710 1.000 2 2000 2018
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 0 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 0 1993 1993
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 0 1997 1997
dbSNP: rs6467
rs6467
CYP21A2
0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 1998 2015
dbSNP: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 9 1998 2015
dbSNP: rs6475
rs6475
CYP21A2
0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 9 1998 2015
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