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: 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: 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: 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: 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 2 2013 2016
dbSNP: rs532098
rs532098
HLA-DRB1
0.882 0.120 6 32610275 intergenic variant G/A snv 0.43
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 2 2010 2012
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: 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 2 2011 2015
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: rs1059362
rs1059362
HLA-DRB1
6 32580773 synonymous variant G/A snv 7.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs1064713
rs1064713
HLA-DRB1
1.000 0.080 6 32578889 3 prime UTR variant G/A;C;T snv 2.6E-02 2.1E-02
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2019 2019
dbSNP: rs113399573
rs113399573
HLA-DRB1
6 32591382 upstream gene variant C/T snv 0.23
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs113520250
rs113520250
HLA-DRB1
1.000 0.040 6 32587108 intron variant C/T snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
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: rs115673262
rs115673262
HLA-DRB1
1.000 0.040 6 32604965 intergenic variant C/G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs115736757
rs115736757
HLA-DRB1
1.000 0.040 6 32607947 intergenic variant T/C snv 4.7E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs116119619
rs116119619
HLA-DRB1
1.000 0.040 6 32607948 intergenic variant G/A snv 4.7E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs116763083
rs116763083
HLA-DRB1
6 32602155 intergenic variant T/A snv 4.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11753207
rs11753207
HLA-DRB1
1.000 0.040 6 32584671 intron variant A/C snv 0.12
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs11753207
rs11753207
HLA-DRB1
1.000 0.040 6 32584671 intron variant A/C snv 0.12
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017