Source: CURATED

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: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.800 1.000 4 2008 2016
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.800 1.000 2 2007 2010
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.800 1.000 1 2011 2011
dbSNP: rs9272535
rs9272535
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 1 2011 2011
dbSNP: rs9276370
rs9276370
HLA-DQA2
0.882 0.200 6 32739518 upstream gene variant G/T snv 0.51
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.710 1.000 2 2011 2014
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.710 1.000 1 2014 2014
dbSNP: rs9272729
rs9272729
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1.000 0.120 6 32641817 intron variant G/A;C snv
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.710 1.000 1 2017 2017
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs2071800
rs2071800
HLA-DQA2
1.000 0.120 6 32746366 missense variant G/A snv 6.1E-02 5.5E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 2 2007 2011
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 2 2009 2012
dbSNP: rs1048372
rs1048372
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
6 32642659 synonymous variant T/C snv 0.63 0.34
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs116593970
rs116593970
HLA-DQA2
1.000 0.040 6 32742213 intron variant C/T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs116593970
rs116593970
HLA-DQA2
1.000 0.040 6 32742213 intron variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs17500468
rs17500468
HLA-DQA2
1.000 0.120 6 32743401 intron variant A/G snv 9.8E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2051598
rs2051598
HLA-DQA2
1.000 0.080 6 32741586 intron variant G/A snv 0.71
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.700 1.000 1 2013 2013
dbSNP: rs2051600
rs2051600
HLA-DQA2
1.000 0.120 6 32741532 splice region variant A/G snv 0.81 0.81
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0024137
Disease: Lupus Erythematosus, Cutaneous
Lupus Erythematosus, Cutaneous 		0.700 1.000 1 2015 2015
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0238067
Disease: Colitis, Collagenous
Colitis, Collagenous 		0.700 1.000 1 2017 2017
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0202083
Disease: Immunoglobulin A measurement
Immunoglobulin A measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2009 2009
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2016 2016
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2011 2011
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 1.000 1 2012 2012