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: rs1048709
rs1048709
CFB ; CYP21A2
0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2016 2016
dbSNP: rs11594656
rs11594656 		0.776 0.240 10 6080046 intergenic variant T/A snv 0.18
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2015 2015
dbSNP: rs12722495
rs12722495
IL2RA
0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2015 2015
dbSNP: rs1805110
rs1805110
TGFBR3
0.882 0.200 1 91861488 missense variant G/A snv 0.13 0.13
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2015 2015
dbSNP: rs2104286
rs2104286
IL2RA
0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2011 2011
dbSNP: rs2275913
rs2275913
IL17A
0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2008 2008
dbSNP: rs758548184
rs758548184
NOD2
0.851 0.240 16 50699557 missense variant G/C snv
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2008 2008
dbSNP: rs8193036
rs8193036
IL17A
0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2015 2015