Source: BEFREE

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: rs1946518
rs1946518
IL18
0.602 0.760 11 112164735 intron variant T/G snv 0.60
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 0.667 3 2012 2015
dbSNP: rs2070197
rs2070197
IRF5
0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.730 0.750 3 2007 2015
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
0.752 0.360 4 122617757 intron variant C/T snv 0.77
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2008 2015
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2011 2017
dbSNP: rs2275913
rs2275913
IL17A
0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2016 2019
dbSNP: rs360719
rs360719
IL18 ; TEX12 ; LOC107987164
0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2011 2015
dbSNP: rs4917014
rs4917014 		0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.830 1.000 3 2009 2017
dbSNP: rs4963128
rs4963128
PHRF1
0.882 0.120 11 589564 intron variant T/C snv 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.830 1.000 3 2008 2012
dbSNP: rs548234
rs548234
ATG5
0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.830 1.000 3 2009 2017
dbSNP: rs57095329
rs57095329
MIR3142HG
0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2011 2016
dbSNP: rs6445975
rs6445975
PXK
0.851 0.160 3 58384450 intron variant G/T snv 0.63
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.830 1.000 3 2008 2012
dbSNP: rs7708392
rs7708392
TNIP1
0.732 0.400 5 151077924 intron variant G/C snv 0.44
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.730 1.000 3 2009 2018
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2008 2017
dbSNP: rs878859113
rs878859113
CD24
0.763 0.360 6 106971734 missense variant G/A snv 0.35
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 0.667 3 2007 2015
dbSNP: rs907715
rs907715
IL21
0.752 0.520 4 122613898 intron variant C/T snv 0.35
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2008 2015
dbSNP: rs10181656
rs10181656
STAT4
0.763 0.360 2 191105153 intron variant G/C snv 0.79
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2008 2010
dbSNP: rs10489265
rs10489265
TNFSF4 ; LOC100506023
0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.720 1.000 2 2012 2013
dbSNP: rs10889677
rs10889677
IL23R
0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2010 2013
dbSNP: rs1130864
rs1130864
CRP
0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2017 2018
dbSNP: rs11574637
rs11574637
ITGAX
0.882 0.200 16 31357553 missense variant T/C snv 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.820 1.000 2 2008 2011
dbSNP: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2013 2016
dbSNP: rs148314165
rs148314165 		0.925 0.160 6 137908902 intergenic variant T/- delins 2.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2013 2019
dbSNP: rs153109
rs153109
IL27
0.623 0.600 16 28507775 intron variant T/C snv 0.43
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2016 2016
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2012 2017
dbSNP: rs200820567
rs200820567 		0.882 0.160 6 137908903 intergenic variant T/A snv 2.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2013 2019