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: 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: rs35445101
rs35445101
HLA-DRB1
0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
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: rs9256938
rs9256938
HLA-DRB1
6 32579417 intron variant C/A;G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9269749
rs9269749
HLA-DRB1
1.000 0.040 6 32580359 intron variant T/A;C;G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9269761
rs9269761
HLA-DRB1
1.000 0.040 6 32580503 intron variant G/A;C snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
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: rs34309628
rs34309628
HLA-DRB1
1.000 0.040 6 32581554 splice region variant C/A;T snv 0.14; 3.3E-03
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 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: 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: 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: rs41293179
rs41293179
HLA-DRB1
1.000 0.040 6 32582101 intron variant C/G;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs41293179
rs41293179
HLA-DRB1
1.000 0.040 6 32582101 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs142790902
rs142790902
HLA-DRB1
1.000 0.040 6 32582137 intron variant T/C snv 6.0E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs142790902
rs142790902
HLA-DRB1
1.000 0.040 6 32582137 intron variant T/C snv 6.0E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs9269853
rs9269853
HLA-DRB1
1.000 0.080 6 32582545 intron variant A/C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2019 2019
dbSNP: rs28724008
rs28724008
HLA-DRB1
1.000 0.040 6 32582773 intron variant C/G snv 0.14
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28724031
rs28724031
HLA-DRB1
1.000 0.040 6 32583042 intron variant C/A snv 0.27
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs28724033
rs28724033
HLA-DRB1
1.000 0.040 6 32583128 intron variant C/A;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs144660248
rs144660248
HLA-DRB1
1.000 0.040 6 32583926 intron variant G/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs144660248
rs144660248
HLA-DRB1
1.000 0.040 6 32583926 intron variant G/T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
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: 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