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: 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: 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: 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: 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: 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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2016 2016
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
dbSNP: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		0.010 1.000 1 2017 2017
dbSNP: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C0543697
Disease: Mixed cryoglobulinemia
Mixed cryoglobulinemia 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C0746351
Disease: Benign Lymphoproliferative Disorder
Benign Lymphoproliferative Disorder 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 1.000 1 2017 2017
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: 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: 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: 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: 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