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: rs60131261
rs60131261
HLA-A
1.000 0.040 6 29969559 downstream gene variant TTTA/- delins 0.26
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 1 2016 2016
dbSNP: rs111312615
rs111312615
HLA-A
1.000 0.040 6 29955302 upstream gene variant T/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 2 2017 2019
dbSNP: rs111312615
rs111312615
HLA-A
1.000 0.040 6 29955302 upstream gene variant T/G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs2499
rs2499
HLA-A
6 29945765 3 prime UTR variant T/G snv 0.87
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3094141
rs3094141
HLA-A
6 29942030 5 prime UTR variant T/G snv 0.87
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7758512
rs7758512
HLA-A ; ZNRD1ASP
1.000 6 30002812 intron variant T/G snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs7758512
rs7758512
HLA-A ; ZNRD1ASP
1.000 6 30002812 intron variant T/G snv 0.17
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.800 1.000 1 2009 2009
dbSNP: rs7758512
rs7758512
HLA-A ; ZNRD1ASP
1.000 6 30002812 intron variant T/G snv 0.17
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs7758512
rs7758512
HLA-A ; ZNRD1ASP
1.000 6 30002812 intron variant T/G snv 0.17
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.800 1.000 1 2009 2009
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs9260620
rs9260620
HLA-A
6 29955314 upstream gene variant T/G snv 0.24
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1061535
rs1061535
HLA-A
6 29970147 upstream gene variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs115729734
rs115729734
HLA-A
1.000 0.080 6 29931238 upstream gene variant T/C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2017 2017
dbSNP: rs199474357
rs199474357
HLA-A
0.925 0.120 6 29942790 missense variant T/C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs199474357
rs199474357
HLA-A
0.925 0.120 6 29942790 missense variant T/C;G snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2016 2016
dbSNP: rs2508037
rs2508037
HLA-A
6 29950659 downstream gene variant T/C;G snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5009448
rs5009448
HLA-A
1.000 0.120 6 29972711 upstream gene variant T/C snv 0.74
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 3 2009 2012
dbSNP: rs115625073
rs115625073
HLA-A ; HCG4B
1.000 0.040 6 29924456 upstream gene variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs115625073
rs115625073
HLA-A ; HCG4B
1.000 0.040 6 29924456 upstream gene variant T/C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs144304366
rs144304366
HLA-A
1.000 0.040 6 29936216 downstream gene variant T/C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017