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: rs2524079
rs2524079
HLA-B
6 31274397 intron variant G/A snv 0.44
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.800 1.000 4 2011 2019
dbSNP: rs2428494
rs2428494
HLA-B
0.827 0.160 6 31354420 intron variant T/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 3 2016 2019
dbSNP: rs2853946
rs2853946
HLA-B
6 31279426 intron variant A/G;T snv 0.37
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2014 2019
dbSNP: rs1065386
rs1065386
HLA-B ; MIR6891
1.000 0.160 6 31356770 missense variant G/A;C;T snv 0.34; 5.6E-06
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		0.700 1.000 1 2019 2019
dbSNP: rs1093
rs1093
HLA-B
1.000 0.080 6 31354129 3 prime UTR variant A/G snv 0.15
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2019 2019
dbSNP: rs114444221
rs114444221
HLA-B
0.925 0.080 6 31335547 intron variant A/G snv 0.18
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2019 2019
dbSNP: rs114444221
rs114444221
HLA-B
0.925 0.080 6 31335547 intron variant A/G snv 0.18
CUI: C0264408
Disease: Childhood asthma
Childhood 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: rs115429782
rs115429782
HLA-B ; LINC02571 ; LOC112267902
1.000 0.080 6 31297975 intron variant T/C snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.700 1.000 1 2019 2019
dbSNP: rs116509918
rs116509918
HLA-B
1.000 0.040 6 31345252 intron variant G/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2019 2019
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: rs12199223
rs12199223
HLA-B
1.000 0.040 6 31274954 intron variant T/A snv 8.6E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2019 2019
dbSNP: rs142628781
rs142628781
HLA-B ; LINC02571 ; LOC112267902
1.000 0.040 6 31303021 intron variant C/T snv 3.7E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.700 1.000 1 2019 2019
dbSNP: rs147324178
rs147324178
HLA-B ; MIR6891
0.925 6 31356965 splice region variant T/A;C snv 9.2E-05; 0.85
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs147324178
rs147324178
HLA-B ; MIR6891
0.925 6 31356965 splice region variant T/A;C snv 9.2E-05; 0.85
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs17192932
rs17192932
HLA-B
1.000 0.040 6 31354352 intron variant C/G snv 4.9E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2019 2019
dbSNP: rs17199328
rs17199328
HLA-B
6 31354618 non coding transcript exon variant A/C;G;T snv 4.0E-06; 9.8E-02
CUI: C0019360
Disease: Herpes zoster disease
Herpes zoster disease 		0.700 1.000 1 2019 2019
dbSNP: rs2249742
rs2249742
HLA-B ; HLA-C
0.925 0.120 6 31272944 intron variant C/T snv 0.50
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
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: rs2428494
rs2428494
HLA-B
0.827 0.160 6 31354420 intron variant T/A;C snv
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs2428494
rs2428494
HLA-B
0.827 0.160 6 31354420 intron variant T/A;C snv
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.700 1.000 1 2019 2019
dbSNP: rs2428494
rs2428494
HLA-B
0.827 0.160 6 31354420 intron variant T/A;C snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.700 1.000 1 2019 2019
dbSNP: rs2523608
rs2523608
HLA-B ; MIR6891
0.925 0.040 6 31354782 non coding transcript exon variant G/A snv 0.19
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 1.000 1 2019 2019
dbSNP: rs2523616
rs2523616
HLA-B
0.925 6 31352785 intron variant T/C snv 0.84
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs2523616
rs2523616
HLA-B
0.925 6 31352785 intron variant T/C snv 0.84
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019