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: 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: 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: 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: 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: 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: 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: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.010 1.000 1 2004 2004
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.030 1.000 3 1998 2002
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.020 1.000 2 1998 2002
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.020 1.000 2 1998 2002
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 2 2009 2012
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.010 1.000 1 2002 2002
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2002 2002
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.010 < 0.001 1 1998 1998
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2009 2009
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 1.000 1 2012 2012
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 1.000 1 2018 2018
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
0.807 0.320 6 29978172 intron variant G/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2014 2014
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010