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: rs1430452530
rs1430452530
HIF1A ; HIF1A-AS3
0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2010 2016
dbSNP: rs1430452530
rs1430452530
HIF1A ; HIF1A-AS3
0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs1430452530
rs1430452530
HIF1A ; HIF1A-AS3
0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1430452530
rs1430452530
HIF1A ; HIF1A-AS3
0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2016 2016
dbSNP: rs1430452530
rs1430452530
HIF1A ; HIF1A-AS3
0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2010 2010