HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
Disease: Malignant neoplasm of breast ×
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2008
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2018
dbSNP: rs142179458
rs142179458 		0.925 0.080 14 61736905 missense variant G/A snv 2.2E-03 9.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs574603732
rs574603732 		0.925 0.080 14 61740832 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012