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: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 0.867 11 2008 2019
dbSNP: rs610604
rs610604
TNFAIP3
0.827 0.240 6 137878280 intron variant G/T snv 0.58
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.860 1.000 6 2009 2015
dbSNP: rs5029939
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.850 1.000 5 2008 2017
dbSNP: rs5029937
rs5029937
TNFAIP3
0.882 0.160 6 137874014 intron variant G/T snv 0.13
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.740 1.000 4 2009 2017
dbSNP: rs3757173
rs3757173
TNFAIP3 ; WAKMAR2
1.000 0.080 6 137869017 intron variant A/G snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.720 1.000 2 2012 2016
dbSNP: rs5029937
rs5029937
TNFAIP3
0.882 0.160 6 137874014 intron variant G/T snv 0.13
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.710 1.000 1 2009 2016
dbSNP: rs610604
rs610604
TNFAIP3
0.827 0.240 6 137878280 intron variant G/T snv 0.58
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.710 1.000 1 2015 2015
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.080 1.000 8 2010 2017
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.040 1.000 4 2013 2019
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.040 1.000 4 2013 2019
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.040 1.000 4 2013 2019
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 0.667 3 2013 2018
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.020 1.000 2 2011 2012
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.020 1.000 2 2011 2018
dbSNP: rs5029939
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 1.000 2 2010 2017
dbSNP: rs582757
rs582757
TNFAIP3
0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2009 2015
dbSNP: rs1423560438
rs1423560438
TNFAIP3
0.882 0.080 6 137875748 stop gained C/T snv
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.010 1.000 1 2019 2019
dbSNP: rs1423560438
rs1423560438
TNFAIP3
0.882 0.080 6 137875748 stop gained C/T snv
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1423560438
rs1423560438
TNFAIP3
0.882 0.080 6 137875748 stop gained C/T snv
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.010 1.000 1 2019 2019
dbSNP: rs143002189
rs143002189
TNFAIP3
1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs143002189
rs143002189
TNFAIP3
1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs143002189
rs143002189
TNFAIP3
1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2016 2016
dbSNP: rs146534657
rs146534657
TNFAIP3
1.000 0.120 6 137874854 missense variant A/G snv 1.4E-02 6.0E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2015 2015
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 < 0.001 1 2015 2015