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: 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
dbSNP: rs759736443
rs759736443
CYP21A2 ; TNXB
0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 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: 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: rs104893977
rs104893977
CYP21A2 ; NEU1
1.000 0.160 6 31860458 missense variant A/T snv 1.2E-05 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.700 1.000 9 1996 2014
dbSNP: rs28940583
rs28940583
CYP21A2 ; NEU1
0.882 0.160 6 31860588 missense variant C/T snv 5.6E-05 1.7E-04
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.700 1.000 9 1996 2014
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: rs754068739
rs754068739
CYP21A2 ; NEU1
1.000 0.160 6 31860581 missense variant C/G;T snv 4.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.700 1.000 9 1996 2014
dbSNP: rs762400331
rs762400331
CYP21A2 ; NEU1
1.000 0.160 6 31860545 missense variant A/T snv 4.0E-06 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.700 1.000 9 1996 2014
dbSNP: rs769765227
rs769765227
CYP21A2 ; NEU1
0.925 0.160 6 31860558 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.700 1.000 9 1996 2014
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: rs1042663
rs1042663
C2 ; CYP21A2 ; C2-AS1
0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs2734335
rs2734335
C2 ; CYP21A2
1.000 0.120 6 31926167 intron variant G/A snv 0.53
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs387608
rs387608
CYP21A2 ; DXO ; STK19
0.925 0.200 6 31973780 intron variant G/A snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
0.882 0.240 6 31965384 intron variant G/A snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011