E2F1, E2F transcription factor 1, 1869

N. diseases: 324; N. variants: 7
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: rs3213176
rs3213176 		0.776 0.120 20 33676869 missense variant C/T snv 1.9E-02; 5.1E-06 1.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3213176
rs3213176 		0.776 0.120 20 33676869 missense variant C/T snv 1.9E-02; 5.1E-06 1.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3213180
rs3213180 		0.925 0.120 20 33675818 3 prime UTR variant G/C snv 7.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019