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: 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: 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: 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: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.010 < 0.001 1 2005 2005
dbSNP: rs771131230
rs771131230
HLA-DRB1
0.925 0.120 6 32581827 missense variant C/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2011 2011
dbSNP: rs771131230
rs771131230
HLA-DRB1
0.925 0.120 6 32581827 missense variant C/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2011 2011
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: 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: 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.810 1.000 1 2007 2018
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: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.810 1.000 1 2011 2015
dbSNP: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs660895
rs660895
HLA-DRB1
0.752 0.360 6 32609603 intergenic variant A/G snv 0.19
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
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