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: rs641153
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.947 19 2007 2019
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.870 1.000 12 2010 2019
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.860 1.000 8 2006 2018
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: rs1270942
rs1270942
CFB ; CYP21A2
0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.810 1.000 4 2008 2015
dbSNP: rs541862
rs541862
CFB ; CYP21A2
0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.810 1.000 3 2012 2013
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.810 0.500 2 2010 2013
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: 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 9 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 9 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 9 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 9 1996 2014
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 4 2007 2010
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 2 2009 2010
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.800 1.000 2 2007 2015
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 1 2012 2012
dbSNP: rs406936
rs406936
CYP21A2 ; SKIV2L
0.882 0.240 6 31965384 intron variant G/A snv 0.19
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 1.000 1 2013 2013
dbSNP: rs4151657
rs4151657
CFB ; CYP21A2
0.925 0.160 6 31949763 non coding transcript exon variant T/C snv 0.27
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 1.000 1 2015 2015
dbSNP: rs494620
rs494620
CYP21A2 ; SLC44A4
0.925 0.120 6 31870936 stop gained G/A;T snv 0.44; 4.1E-06
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 1 2009 2009
dbSNP: rs522162
rs522162
CFB ; CYP21A2 ; NELFE
0.925 0.160 6 31952140 3 prime UTR variant T/C snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 1.000 1 2013 2013
dbSNP: rs558702
rs558702
C2 ; CYP21A2 ; ZBTB12
0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.800 1.000 1 2014 2014
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.800 1.000 1 2013 2013
dbSNP: rs9380272
rs9380272
C2 ; CYP21A2 ; C2-AS1
1.000 0.040 6 31938233 intron variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.800 1.000 1 2010 2010
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