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: 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
dbSNP: rs3213180
rs3213180 		0.925 0.120 20 33675818 3 prime UTR variant G/C snv 7.6E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2017 2018
dbSNP: rs3213172
rs3213172 		0.882 0.080 20 33677511 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3213172
rs3213172 		0.882 0.080 20 33677511 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3213172
rs3213172 		0.882 0.080 20 33677511 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3213173
rs3213173 		0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03
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: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 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: C0684249
Disease: Carcinoma of lung
Carcinoma 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: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 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: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 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: 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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs3213180
rs3213180 		0.925 0.120 20 33675818 3 prime UTR variant G/C snv 7.6E-02
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3213182
rs3213182 		1.000 0.040 20 33675427 upstream gene variant A/C snv 7.2E-02
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs3213183
rs3213183 		1.000 0.040 20 33675156 intron variant G/A;C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012