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: rs5010528
rs5010528
HLA-B ; HLA-C
0.827 0.240 6 31273255 intron variant A/G snv 0.15
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.720 1.000 2 2017 2018
dbSNP: rs5010528
rs5010528
HLA-B ; HLA-C
0.827 0.240 6 31273255 intron variant A/G snv 0.15
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		0.020 1.000 2 2017 2018
dbSNP: rs115404146
rs115404146
HLA-C
1.000 0.040 6 31269031 3 prime UTR variant C/A;G snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2017 2017
dbSNP: rs139702282
rs139702282
HLA-B ; HLA-C
1.000 0.040 6 31269495 missense variant G/A;C;T snv 7.2E-05
CUI: C1304140
Disease: Familial psoriasis
Familial psoriasis 		0.010 1.000 1 2012 2012
dbSNP: rs17408553
rs17408553
HLA-B ; HLA-C
0.925 0.080 6 31271630 missense variant G/A;T snv 0.37
CUI: C0149530
Disease: Congenital heart block
Congenital heart block 		0.010 1.000 1 2017 2017
dbSNP: rs17408553
rs17408553
HLA-B ; HLA-C
0.925 0.080 6 31271630 missense variant G/A;T snv 0.37
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2017 2017
dbSNP: rs182798226
rs182798226
HLA-B ; HLA-C
0.925 0.080 6 31271285 missense variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2014 2014
dbSNP: rs182798226
rs182798226
HLA-B ; HLA-C
0.925 0.080 6 31271285 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.010 1.000 1 2014 2014
dbSNP: rs2308557
rs2308557
HLA-B ; HLA-C
1.000 0.080 6 31271640 missense variant C/A;G;T snv 0.37
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2016 2016
dbSNP: rs281860348
rs281860348
HLA-B ; HLA-C
1.000 0.080 6 31271784 missense variant T/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs281860350
rs281860350
HLA-B ; HLA-C
1.000 0.040 6 31271780 synonymous variant G/A snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2008 2008
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: rs281860386
rs281860386
HLA-B ; HLA-C
1.000 0.080 6 31271696 missense variant C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2012 2012
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: rs281860458
rs281860458
HLA-B ; HLA-C
1.000 0.080 6 31271300 missense variant C/A;G snv 4.1E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs281860471
rs281860471
HLA-B ; HLA-C
1.000 0.040 6 31271267 missense variant T/C snv 4.0E-05
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.010 1.000 1 2012 2012
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: 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: 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: 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: rs281860566
rs281860566
HLA-B ; HLA-C
1.000 0.080 6 31270339 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2012 2012
dbSNP: rs281860580
rs281860580
HLA-B ; HLA-C
6 31270083 missense variant G/A;T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.010 1.000 1 2014 2014