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: rs9264942
rs9264942
HLA-B ; LOC112267902
0.763 0.400 6 31306603 intron variant T/C snv 0.34
CUI: C4016207
Disease: HIV-1 VIREMIA, SUSCEPTIBILITY TO
HIV-1 VIREMIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs281860503
rs281860503
HLA-B ; HLA-C
1.000 0.040 6 31271187 missense variant G/A;C;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 1997 1997
dbSNP: rs281860563
rs281860563
HLA-B ; HLA-C
1.000 0.040 6 31270363 stop gained G/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 1997 1997
dbSNP: rs45580333
rs45580333
HLA-B ; HLA-C
1.000 0.040 6 31271262 missense variant C/A;G;T snv 4.0E-06 1.5E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 1997 1997
dbSNP: rs41562916
rs41562916
HLA-B ; HLA-C
1.000 0.080 6 31271130 missense variant A/C snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.010 1.000 1 1998 1998
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
0.882 0.080 6 31271730 missense variant G/C snv
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 < 0.001 1 2002 2002
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
0.882 0.080 6 31271730 missense variant G/C snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 < 0.001 1 2002 2002
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
0.882 0.080 6 31271730 missense variant G/C snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 < 0.001 1 2002 2002
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
0.925 0.080 6 31271690 stop gained C/T snv
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 < 0.001 1 2005 2005
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
0.925 0.080 6 31271690 stop gained C/T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 < 0.001 1 2005 2005
dbSNP: rs1232620504
rs1232620504
HLA-B
1.000 0.120 6 31354503 missense variant C/T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 < 0.001 1 2006 2006
dbSNP: rs281860554
rs281860554
HLA-B ; HLA-C
1.000 0.080 6 31270435 missense variant T/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.010 1.000 1 2006 2006
dbSNP: rs1058026
rs1058026
HLA-B
0.925 0.120 6 31353908 3 prime UTR variant A/C snv 0.21
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs1634747
rs1634747
HLA-B
1.000 0.120 6 31314099 intron variant G/A snv 0.41
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2156875
rs2156875
HLA-B
0.882 0.200 6 31349570 intron variant C/T snv 0.50
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2247056
rs2247056
HLA-B ; LINC02571 ; LOC112267902
0.882 0.160 6 31297713 intron variant T/C snv 0.80
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2249742
rs2249742
HLA-B ; HLA-C
0.925 0.120 6 31272944 intron variant C/T snv 0.50
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2395471
rs2395471
HLA-B ; HLA-C
0.925 0.120 6 31272915 intron variant G/A snv 0.47
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2442719
rs2442719
HLA-B
0.882 0.120 6 31352761 intron variant C/T snv 0.53
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs2524089
rs2524089
HLA-B ; LINC02571 ; LOC112267902
0.925 0.160 6 31298745 intron variant G/T snv 0.65
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs2524095
rs2524095
HLA-B ; LINC02571 ; LOC112267902
0.925 0.160 6 31298340 intron variant A/C snv 0.65
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs2596501
rs2596501
HLA-B
0.882 0.200 6 31353434 intron variant C/T snv 0.57
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs281860486
rs281860486
HLA-B ; HLA-C
1.000 0.040 6 31271236 synonymous variant C/T snv
CUI: C0019340
Disease: Herpes NOS
Herpes NOS 		0.010 1.000 1 2007 2007
dbSNP: rs3094682
rs3094682
HLA-B ; LINC02571 ; LOC112267902
1.000 0.120 6 31296684 intron variant A/C;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs3094691
rs3094691
HLA-B ; LOC112267902
1.000 0.120 6 31306916 intron variant G/A snv 0.51
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007