HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11549465
rs11549465
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2301113
rs2301113
0.925 0.120 14 61739830 intron variant C/A snv 0.60
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015