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: rs2523594
rs2523594
HLA-B
1.000 0.040 6 31358852 upstream gene variant C/T snv 0.70
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs2523595
rs2523595
HLA-B
1.000 0.040 6 31358841 upstream gene variant G/A snv 0.70
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs2596475
rs2596475
HLA-B
1.000 0.040 6 31358547 upstream gene variant C/G;T snv 0.68
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9378248
rs9378248
HLA-B
6 31358512 upstream gene variant G/A snv 0.49
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4947311
rs4947311
HLA-B
6 31358389 upstream gene variant C/T snv 0.65
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs117486637
rs117486637
HLA-B
1.000 0.040 6 31358156 upstream gene variant T/C snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2019 2019
dbSNP: rs9266257
rs9266257
HLA-B
1.000 0.040 6 31358109 upstream gene variant G/A;C snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266257
rs9266257
HLA-B
1.000 0.040 6 31358109 upstream gene variant G/A;C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9266250
rs9266250
HLA-B
1.000 0.040 6 31358015 upstream gene variant A/G;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266245
rs9266245
HLA-B
1.000 0.040 6 31357925 upstream gene variant A/G snv 0.79
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266244
rs9266244
HLA-B
1.000 0.040 6 31357915 upstream gene variant G/A snv 0.79
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266243
rs9266243
HLA-B
1.000 0.040 6 31357846 upstream gene variant T/A;C snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266242
rs9266242
HLA-B
1.000 0.040 6 31357843 upstream gene variant T/C snv 0.72
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266237
rs9266237
HLA-B
1.000 0.040 6 31357744 upstream gene variant G/C snv 0.72
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.700 1.000 1 2019 2019
dbSNP: rs9266232
rs9266232
HLA-B
1.000 0.040 6 31357647 upstream gene variant G/T snv 0.72
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266231
rs9266231
HLA-B
1.000 0.040 6 31357603 non coding transcript exon variant C/T snv 0.72
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266230
rs9266230
HLA-B
1.000 0.040 6 31357564 non coding transcript exon variant G/C snv 0.72
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs9266229
rs9266229
HLA-B
6 31357546 non coding transcript exon variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9266229
rs9266229
HLA-B
6 31357546 non coding transcript exon variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9266229
rs9266229
HLA-B
6 31357546 non coding transcript exon variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2596487
rs2596487
HLA-B ; MIR6891
1.000 0.040 6 31357279 non coding transcript exon variant C/T snv 0.31
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		0.010 1.000 1 2017 2017
dbSNP: rs9266214
rs9266214
HLA-B ; MIR6891
1.000 0.040 6 31357272 non coding transcript exon variant G/A;C;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.700 1.000 1 2012 2012
dbSNP: rs34437781
rs34437781
HLA-B ; MIR6891
1.000 0.080 6 31357178 5 prime UTR variant C/T snv 1.1E-05; 5.2E-02 1.8E-03
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2019 2019
dbSNP: rs114811870
rs114811870
HLA-B ; MIR6891
6 31357161 5 prime UTR variant C/T snv 4.2E-02 8.2E-02
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		0.700 1.000 1 2019 2019
dbSNP: rs41552714
rs41552714
HLA-B ; MIR6891
6 31356979 missense variant G/A snv 3.6E-02 7.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018