TOP2A, DNA topoisomerase II alpha, 7153

N. diseases: 200; N. variants: 5
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: rs13695
rs13695 		17 40388941 3 prime UTR variant C/T snv 0.18
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs16965748
rs16965748 		1.000 0.040 17 40399305 intron variant T/C snv 4.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2715555
rs2715555 		0.925 0.080 17 40388372 downstream gene variant G/A snv 9.5E-02
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2715555
rs2715555 		0.925 0.080 17 40388372 downstream gene variant G/A snv 9.5E-02
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs471692
rs471692 		0.925 0.080 17 40400518 intron variant T/A;C snv 0.79
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs471692
rs471692 		0.925 0.080 17 40400518 intron variant T/A;C snv 0.79
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs471692
rs471692 		0.925 0.080 17 40400518 intron variant T/A;C snv 0.79
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs77777702
rs77777702 		1.000 0.080 17 40401272 intron variant G/A snv 9.1E-03
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019