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: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2016 2016
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.710 1.000 1 2013 2016
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2016 2016
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: rs2858870
rs2858870
HLA-DRB1
0.851 0.280 6 32604474 intergenic variant T/A;C snv
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.010 1.000 1 2018 2018
dbSNP: rs2858870
rs2858870
HLA-DRB1
0.851 0.280 6 32604474 intergenic variant T/A;C snv
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.710 1.000 1 2012 2012
dbSNP: rs3021304
rs3021304
HLA-DRB1
1.000 0.120 6 32607881 intergenic variant G/C snv 0.51
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		0.710 1.000 1 2014 2014
dbSNP: rs1059572
rs1059572
HLA-DRB1
1.000 0.080 6 32584314 missense variant G/A;C;T snv 1.1E-02; 1.8E-05
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.010 1.000 1 2018 2018
dbSNP: rs17878703
rs17878703
HLA-DRB1
0.882 0.080 6 32584360 missense variant G/A;C;T snv 2.6E-02; 5.7E-04; 0.18; 1.3E-05
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs17878703
rs17878703
HLA-DRB1
0.882 0.080 6 32584360 missense variant G/A;C;T snv 2.6E-02; 5.7E-04; 0.18; 1.3E-05
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2018 2018
dbSNP: rs17878703
rs17878703
HLA-DRB1
0.882 0.080 6 32584360 missense variant G/A;C;T snv 2.6E-02; 5.7E-04; 0.18; 1.3E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2018 2018
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: rs9269955
rs9269955
HLA-DRB1
1.000 0.040 6 32584361 missense variant G/A;C;T snv 4.7E-05; 5.9E-03
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2012 2012
dbSNP: rs17879702
rs17879702
HLA-DRB1
1.000 0.080 6 32584346 missense variant G/A snv 3.2E-02 5.7E-02
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		0.010 1.000 1 2016 2016
dbSNP: rs17879702
rs17879702
HLA-DRB1
1.000 0.080 6 32584346 missense variant G/A snv 3.2E-02 5.7E-02
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.010 1.000 1 2016 2016
dbSNP: rs477515
rs477515
HLA-DRB1
0.790 0.400 6 32601914 intergenic variant G/A snv 0.27
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2014 2014
dbSNP: rs9271117
rs9271117
HLA-DRB1
0.925 0.160 6 32609018 intergenic variant C/T snv 0.72
CUI: C0021400
Disease: Influenza
Influenza 		0.010 1.000 1 2013 2013
dbSNP: rs773389640
rs773389640
HLA-DRB1
0.925 0.120 6 32581821 missense variant C/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2011 2011
dbSNP: rs773389640
rs773389640
HLA-DRB1
0.925 0.120 6 32581821 missense variant C/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2011 2011
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: 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 1998 1999
dbSNP: rs17879469
rs17879469
HLA-DRB1
0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.010 1.000 1 2012 2012
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