Source: BEFREE

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: 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: 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: 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2014 2014
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.010 1.000 1 2004 2004
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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2013 2013
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2014 2014
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2014 2014
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: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2002 2002
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: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		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: C0022408
Disease: Arthropathy
Arthropathy 		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