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: 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: C0014175
Disease: Endometriosis
Endometriosis 		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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		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: 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: 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: rs9270657
rs9270657
HLA-DRB1
0.925 0.160 6 32598244 intergenic variant T/G snv 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
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: 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: 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: rs13191764
rs13191764
HLA-DRB1
1.000 0.040 6 32602333 intergenic variant T/A snv 4.8E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs144453041
rs144453041
HLA-DRB1
1.000 0.040 6 32605248 intergenic variant A/G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs17191234
rs17191234
HLA-DRB1
1.000 0.040 6 32596904 intergenic variant A/C snv 0.34
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 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: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.010 1.000 1 2012 2012
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: rs2454138
rs2454138
HLA-DRB1
0.925 0.120 6 32602624 intergenic variant G/A snv 0.27
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		0.700 1.000 1 2012 2012
dbSNP: rs2516049
rs2516049
HLA-DRB1
0.742 0.400 6 32602623 intergenic variant T/C snv 0.27
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 1.000 1 2012 2012
dbSNP: rs2516050
rs2516050
HLA-DRB1
1.000 0.040 6 32602575 intergenic variant G/A snv 0.47
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs2647071
rs2647071
HLA-DRB1
1.000 0.040 6 32606133 intergenic variant C/T snv 0.22
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012