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: 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: rs9260484
rs9260484
HLA-A
1.000 0.120 6 29952476 upstream gene variant A/C snv 0.62
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2009 2009
dbSNP: rs3823355
rs3823355
HLA-A ; HCG9
1.000 0.040 6 29974306 upstream gene variant C/A;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.800 1.000 1 2010 2010
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
dbSNP: rs6457110
rs6457110
HLA-A
0.882 0.280 6 29966104 downstream gene variant T/A snv 0.40
CUI: C0021345
Disease: Infectious Mononucleosis
Infectious Mononucleosis 		0.010 1.000 1 2010 2010
dbSNP: rs6457110
rs6457110
HLA-A
0.882 0.280 6 29966104 downstream gene variant T/A snv 0.40
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2010 2010
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: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 1 2010 2010
dbSNP: rs1655902
rs1655902
HLA-A
1.000 0.080 6 29949078 downstream gene variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 1 2011 2011
dbSNP: rs3893464
rs3893464
HLA-A
1.000 0.120 6 29967473 downstream gene variant G/A snv 0.46
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.800 1.000 1 2011 2011
dbSNP: rs4313034
rs4313034
HLA-A ; HLA-J ; ZNRD1ASP
0.925 0.160 6 30006148 non coding transcript exon variant C/T snv 0.78
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.800 1.000 1 2011 2011
dbSNP: rs9260489
rs9260489
HLA-A
1.000 0.080 6 29952555 upstream gene variant T/A;G snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.800 1.000 1 2011 2011
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: 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: 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: 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: rs1061539
rs1061539
HLA-A
1.000 0.040 6 29969778 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: rs1128306
rs1128306
HLA-A ; HCG9
0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2012 2012