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: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.030 1.000 3 1998 2003
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 1998 1999
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: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2001 2001
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.020 0.500 2 2003 2005
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.010 1.000 1 2003 2003
dbSNP: rs1136758
rs1136758
HLA-DRB1
1.000 0.080 6 32584355 missense variant T/A;C;G snv 0.25; 2.7E-02; 4.7E-05; 1.6E-05; 7.6E-03
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.010 1.000 1 2004 2004
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.010 < 0.001 1 2005 2005
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		0.010 < 0.001 1 2005 2005
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 4 2007 2011
dbSNP: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.810 1.000 4 2007 2018
dbSNP: rs615672
rs615672
HLA-DRB1
0.851 0.240 6 32606394 intergenic variant G/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.800 1.000 2 2007 2011
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2858870
rs2858870
HLA-DRB1
0.851 0.280 6 32604474 intergenic variant T/A;C snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs477515
rs477515
HLA-DRB1
0.790 0.400 6 32601914 intergenic variant G/A snv 0.27
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs601945
rs601945
HLA-DRB1
1.000 0.120 6 32605638 intergenic variant A/G snv 0.13
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs615672
rs615672
HLA-DRB1
0.851 0.240 6 32606394 intergenic variant G/A;C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs9270986
rs9270986
HLA-DRB1
0.882 0.160 6 32606283 intergenic variant A/C snv 0.85
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2008 2008
dbSNP: rs477515
rs477515
HLA-DRB1
0.790 0.400 6 32601914 intergenic variant G/A snv 0.27
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 1 2008 2008
dbSNP: rs9271100
rs9271100
HLA-DRB1
0.925 0.120 6 32608701 regulatory region variant T/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.800 1.000 2 2009 2013
dbSNP: rs602875
rs602875
HLA-DRB1
1.000 0.040 6 32605852 intergenic variant A/G snv 0.27
CUI: C0023343
Disease: Leprosy
Leprosy 		0.700 1.000 1 2009 2009
dbSNP: rs615672
rs615672
HLA-DRB1
0.851 0.240 6 32606394 intergenic variant G/A;C snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 1.000 1 2009 2009