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: 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: rs12153855
rs12153855
TNXB
0.776 0.320 6 32107027 intron variant T/C snv 0.11
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.820 1.000 2 2012 2016
dbSNP: rs1150754
rs1150754
TNXB
0.851 0.200 6 32082981 intron variant C/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.810 1.000 2 2011 2017
dbSNP: rs17207986
rs17207986
TNXB
1.000 0.040 6 32111790 non coding transcript exon variant T/C;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.810 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
TNXB
0.776 0.320 6 32107027 intron variant T/C snv 0.11
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.800 1.000 1 2013 2013
dbSNP: rs2857009
rs2857009
TNXB
1.000 0.080 6 32051969 intron variant G/C snv 0.25
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.800 1.000 1 2012 2012
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: rs200005406
rs200005406
CYP21A2 ; TNXB
0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04
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: rs3130342
rs3130342
TNXB
1.000 0.080 6 32112369 non coding transcript exon variant A/C;G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		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: 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 1 1997 1997
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: 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: 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: 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: rs121912575
rs121912575
TNXB
1.000 0.160 6 32084536 missense variant C/T snv 8.3E-04 6.7E-04
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.700 1.000 3 2001 2013
dbSNP: rs2071295
rs2071295
TNXB
0.925 0.120 6 32070923 intron variant C/T snv 0.25
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs2239689
rs2239689
TNXB
0.925 0.120 6 32062507 intron variant G/A snv 0.33 0.25
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs368512272
rs368512272
TNXB
1.000 0.160 6 32098114 missense variant G/A snv 1.6E-05 5.6E-05
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.700 1.000 3 2001 2013
dbSNP: rs587777682
rs587777682
TNXB
0.925 0.160 6 32042353 missense variant G/A snv 4.1E-06
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.700 1.000 3 2001 2013
dbSNP: rs8111
rs8111
ATF6B ; TNXB
0.925 0.160 6 32115398 3 prime UTR variant C/T snv 0.26
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs1150757
rs1150757
TNXB
0.925 0.160 6 32061428 synonymous variant G/A;C snv 5.9E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 2 2015 2016
dbSNP: rs12153855
rs12153855
TNXB
0.776 0.320 6 32107027 intron variant T/C snv 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 2 2007 2009
dbSNP: rs12153855
rs12153855
TNXB
0.776 0.320 6 32107027 intron variant T/C snv 0.11
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010