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: rs2230926
rs2230926
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 15 2008 2019
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.700 1.000 1 2017 2017
dbSNP: rs2230926
rs2230926
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
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
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
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
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
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: rs2230926
rs2230926
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
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular
0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
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
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0035435
Disease: Rheumatism
Rheumatism
0.010 1.000 1 2017 2017
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2011 2011
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 1.000 1 2016 2016
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0085655
Disease: Polymyositis
Polymyositis
0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic
0.010 < 0.001 1 2015 2015
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 < 0.001 1 2015 2015
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases
0.010 1.000 1 2017 2017
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
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