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: rs7749944
rs7749944
HLA-A
0.925 6 29992223 upstream gene variant A/C snv 1.3E-02
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs7749944
rs7749944
HLA-A
0.925 6 29992223 upstream gene variant A/C snv 1.3E-02
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs9260484
rs9260484
HLA-A
1.000 0.120 6 29952476 upstream gene variant A/C snv 0.62
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2009 2009
dbSNP: rs2860580
rs2860580
HLA-A
1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.720 1.000 3 2010 2017
dbSNP: rs2860580
rs2860580
HLA-A
1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		0.700 1.000 2 2010 2016
dbSNP: rs1059536
rs1059536
HLA-A
1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs1059536
rs1059536
HLA-A
1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs1059536
rs1059536
HLA-A
1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs3869062
rs3869062
HLA-A
1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.720 1.000 5 2009 2017
dbSNP: rs12206499
rs12206499
HLA-A
1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 2 2011 2012
dbSNP: rs16896742
rs16896742
HLA-A
6 29954963 upstream gene variant A/G snv 0.35
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.700 1.000 1 2014 2014
dbSNP: rs192543598
rs192543598
HLA-A
6 29963568 downstream gene variant A/G snv 1.6E-02
CUI: C2004491
Disease: Cicatrix
Cicatrix 		0.700 1.000 1 2019 2019
dbSNP: rs192543598
rs192543598
HLA-A
6 29963568 downstream gene variant A/G snv 1.6E-02
CUI: C1869024
Disease: Severe cutaneous adverse reactions (SMQ)
Severe cutaneous adverse reactions (SMQ) 		0.700 1.000 1 2019 2019
dbSNP: rs2735076
rs2735076
HLA-A ; HCG9
1.000 0.040 6 29975713 intron variant A/G snv 0.71
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2012 2012
dbSNP: rs2735076
rs2735076
HLA-A ; HCG9
1.000 0.040 6 29975713 intron variant A/G snv 0.71
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9260973
rs9260973
HLA-A
6 29993803 downstream gene variant A/G snv 0.89
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs113205291
rs113205291
HLA-A
1.000 0.040 6 29894844 upstream gene variant A/G;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs113205291
rs113205291
HLA-A
1.000 0.040 6 29894844 upstream gene variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs28749114
rs28749114
HLA-A
6 29937675 upstream gene variant A/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2010 2010
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs115928623
rs115928623
HLA-A ; MICD
1.000 0.080 6 29971371 intron variant A/T snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.700 1.000 1 2019 2019