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: 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: 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: rs1136759
rs1136759
HLA-DRB1
0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1136759
rs1136759
HLA-DRB1
0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1136759
rs1136759
HLA-DRB1
0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2018 2018
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: 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: 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: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.010 1.000 1 2018 2018
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: 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: 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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2008 2008
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: 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: 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: 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: 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: rs2308765
rs2308765
HLA-DRB1
6 32581757 missense variant A/C;G;T snv 7.6E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
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: 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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2016 2016
dbSNP: rs2647073
rs2647073
HLA-DRB1
1.000 0.080 6 32606237 intergenic variant A/C snv 0.12
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
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: rs35445101
rs35445101
HLA-DRB1
0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.010 1.000 1 2017 2017