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: rs1801690
rs1801690
APOH
0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 1999 1999
dbSNP: rs554866571
rs554866571
CD22
1.000 0.080 19 35336077 missense variant C/G snv 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 1999 1999
dbSNP: rs1188383936
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2000 2000
dbSNP: rs16822805
rs16822805
HLA-DRB1
1.000 0.080 6 32584172 missense variant C/A;G;T snv 6.1E-04; 7.6E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2000 2000
dbSNP: rs17886882
rs17886882
HLA-DRB1
1.000 0.080 6 32584171 missense variant G/A;C;T snv 9.0E-04; 0.12
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2000 2000
dbSNP: rs5746026
rs5746026
TNFRSF1B
1.000 0.080 1 12193005 missense variant G/A snv 2.7E-02 2.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 < 0.001 1 2000 2000
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2000 2002
dbSNP: rs1172908852
rs1172908852
NPL
1.000 0.080 1 182822176 missense variant T/G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2002 2002
dbSNP: rs200215055
rs200215055
FCGR3B
0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2002 2002
dbSNP: rs35979293
rs35979293
CD19 ; RABEP2
0.925 0.080 16 28933379 synonymous variant G/A;T snv 3.2E-05; 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2002 2002
dbSNP: rs34751757
rs34751757
TNFRSF1A
0.882 0.160 12 6333790 missense variant G/A;T snv 1.0E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2004 2004
dbSNP: rs104895257
rs104895257
TNFRSF1A
1.000 0.080 12 6333441 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2004 2004
dbSNP: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2004 2004
dbSNP: rs555743307
rs555743307
IL4R
0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2004 2004
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2004 2004
dbSNP: rs12938
rs12938
SELL ; C1orf112
0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2005 2005
dbSNP: rs2076530
rs2076530
BTNL2 ; TSBP1-AS1
0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2005 2005
dbSNP: rs3219018
rs3219018
FCGR2B
1.000 0.080 1 161662856 upstream gene variant G/C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2005 2005
dbSNP: rs369861029
rs369861029
CD72
1.000 0.080 9 35612990 missense variant G/A snv 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2004 2006
dbSNP: rs231726
rs231726 		0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2006 2006
dbSNP: rs756312947
rs756312947
CALR ; MIR6515
1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2006 2006
dbSNP: rs11575936
rs11575936
IFNGR1
0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 1999 2007
dbSNP: rs10127175
rs10127175
IRAK1
1.000 0.080 X 154018721 missense variant A/T snv 5.1E-03 1.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2007 2007
dbSNP: rs1048971
rs1048971
CR2
0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2007 2007