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: 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: rs7382297
rs7382297
HLA-B
0.925 0.080 6 31279290 intron variant T/C;G snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 2 2007 2010
dbSNP: rs1050529
rs1050529
HLA-B ; MIR6891
0.882 0.040 6 31356838 missense variant C/T snv 0.11
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1050529
rs1050529
HLA-B ; MIR6891
0.882 0.040 6 31356838 missense variant C/T snv 0.11
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1050529
rs1050529
HLA-B ; MIR6891
0.882 0.040 6 31356838 missense variant C/T snv 0.11
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 1 2016 2016
dbSNP: rs10569394
rs10569394
HLA-B ; HLA-C
6 31272468 intron variant -/TC delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs1071816
rs1071816
HLA-B ; MIR6891
1.000 0.040 6 31356759 missense variant T/A;C;G snv 0.30; 0.16; 0.34; 2.7E-02
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		0.700 1.000 1 2016 2016
dbSNP: rs1131275
rs1131275
HLA-B ; MIR6891
1.000 0.040 6 31356183 missense variant G/A;C snv 0.68
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs1131275
rs1131275
HLA-B ; MIR6891
1.000 0.040 6 31356183 missense variant G/A;C snv 0.68
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs1140404
rs1140404
HLA-B ; MIR6891
6 31356750 missense variant T/C;G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs114208039
rs114208039
HLA-B ; HLA-C
6 31273862 intron variant A/G snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs114208039
rs114208039
HLA-B ; HLA-C
6 31273862 intron variant A/G snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2018 2018
dbSNP: rs114274203
rs114274203
HLA-B ; LINC02571 ; LOC112267902
1.000 0.040 6 31300843 intron variant C/T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs114274203
rs114274203
HLA-B ; LINC02571 ; LOC112267902
1.000 0.040 6 31300843 intron variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs114398276
rs114398276
HLA-B
6 31279046 intron variant A/G;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs114584519
rs114584519
HLA-B
6 31345371 intron variant A/T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115283957
rs115283957
HLA-B ; LOC112267902
1.000 0.040 6 31308658 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs115283957
rs115283957
HLA-B ; LOC112267902
1.000 0.040 6 31308658 intron variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv
CUI: C0346163
Disease: Endometrioid carcinoma ovary
Endometrioid carcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.700 1.000 1 2016 2016