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: rs1430452530
rs1430452530
0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2010 2016
dbSNP: rs11549465
rs11549465
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs763538721
rs763538721
0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs779702949
rs779702949
14 61740887 missense variant A/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013