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: 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: rs3869062
rs3869062
HLA-A
1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.720 1.000 5 2009 2017
dbSNP: rs2517713
rs2517713
HLA-A
1.000 0.120 6 29950322 downstream gene variant G/A;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.710 1.000 4 2009 2015
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: rs2860580
rs2860580
HLA-A
1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.720 1.000 3 2010 2017
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: rs9260734
rs9260734
HLA-A
1.000 0.120 6 29964889 intergenic variant G/A snv 0.22
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 3 2009 2012
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: rs12206499
rs12206499
HLA-A
1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 2 2011 2012
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: 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: rs2523946
rs2523946
HLA-A ; HCG9
0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 2 2007 2009
dbSNP: rs2523946
rs2523946
HLA-A ; HCG9
0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.800 1.000 2 2011 2015
dbSNP: rs2860580
rs2860580
HLA-A
1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		0.700 1.000 2 2010 2016
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: rs417162
rs417162
HLA-A
1.000 0.120 6 29948728 downstream gene variant C/T snv 0.66
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 2 2009 2012
dbSNP: rs6904029
rs6904029
HLA-A ; HCG9
0.851 0.200 6 29975290 non coding transcript exon variant G/A snv 0.29 0.26
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 2 2007 2009
dbSNP: rs9260151
rs9260151
HLA-A
1.000 0.120 6 29943253 non coding transcript exon variant C/T snv 0.16 0.14
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.720 0.500 2 2018 2020
dbSNP: rs1059449
rs1059449
HLA-A
1.000 0.120 6 29942921 missense variant G/A snv 6.1E-02 9.0E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 < 0.001 1 2015 2015