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: 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: rs9260742
rs9260742
HLA-A
6 29965772 intergenic variant T/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9260761
rs9260761
HLA-A
6 29967692 downstream gene variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9260973
rs9260973
HLA-A
6 29993803 downstream gene variant A/G snv 0.89
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1061235
rs1061235
HLA-A
6 29945521 3 prime UTR variant A/T snv
CUI: C3277286
Disease: HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO
HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.100 0.923 13 1998 2017
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.090 0.889 9 2001 2017
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.080 1.000 8 1997 2013
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.060 0.833 6 2004 2013
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.020 1.000 2 2004 2005
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0162539
Disease: IgG Deficiency disorder
IgG Deficiency disorder 		0.020 1.000 2 2004 2005
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2002 2013
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2014 2014
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2014 2014
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2004 2004
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		0.010 1.000 1 2014 2014
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.010 1.000 1 2002 2002
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.010 1.000 1 2009 2009
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 1.000 1 2014 2014
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.010 1.000 1 2014 2014