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: 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: rs9264602
rs9264602
HLA-B ; HLA-C
1.000 0.120 6 31269629 non coding transcript exon variant G/A;C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs9264603
rs9264603
HLA-B ; HLA-C
1.000 0.120 6 31269661 non coding transcript exon variant G/A snv 5.0E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs9264606
rs9264606
HLA-B ; HLA-C
1.000 0.120 6 31269815 non coding transcript exon variant A/C snv 7.6E-04
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs9264608
rs9264608
HLA-B ; HLA-C
1.000 0.120 6 31269883 non coding transcript exon variant A/G snv 1.1E-04
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs34794906
rs34794906
HLA-B ; HLA-C
6 31270081 synonymous variant T/C snv 0.34; 8.9E-06
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
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
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: 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: 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: rs9264636
rs9264636
HLA-B ; HLA-C
1.000 0.120 6 31270520 intron variant C/T snv 0.73 1.2E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs9264638
rs9264638
HLA-B ; HLA-C
6 31270541 intron variant G/A;C snv
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement 		0.800 1.000 1 2013 2013
dbSNP: rs9264639
rs9264639
HLA-B ; HLA-C
6 31270545 intron variant C/T snv 1.7E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs9264647
rs9264647
HLA-B ; HLA-C
1.000 0.120 6 31270836 intron variant A/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs75912596
rs75912596
HLA-B ; HLA-C
1.000 0.040 6 31271093 missense variant T/C snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2012 2012
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: rs41550816
rs41550816
HLA-B ; HLA-C
6 31271178 missense variant C/T snv
CUI: C0015967
Disease: Fever
Fever 		0.010 1.000 1 2013 2013
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: 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: 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: 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: rs2308575
rs2308575
HLA-B ; HLA-C
6 31271280 stop lost C/G;T snv 2.2E-05; 0.25
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
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: 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