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: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2014 2017
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2014 2019
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2014 2019
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2012 2012
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2016 2016
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2005 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.060 0.833 6 2007 2017
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.800 5 2007 2017
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2005 2019