TOP1, DNA topoisomerase I, 7150

N. diseases: 143; N. variants: 10
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: rs6029526
rs6029526 		20 41043978 intron variant T/A snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs6029526
rs6029526 		20 41043978 intron variant T/A snv 0.58
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs6029526
rs6029526 		20 41043978 intron variant T/A snv 0.58
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs6065311
rs6065311 		20 41095698 intron variant T/C snv 0.59
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2017 2019
dbSNP: rs16989541
rs16989541 		20 41099055 intron variant G/A snv 9.4E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1997833
rs1997833 		20 41061702 intron variant T/C;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2223745
rs2223745 		20 41085229 intron variant G/A snv 0.57
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6072275
rs6072275 		20 41115265 intron variant G/A snv 0.13
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6072275
rs6072275 		20 41115265 intron variant G/A snv 0.13
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs73611258
rs73611258 		20 41113644 intron variant A/G snv 0.17
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs8122094
rs8122094 		20 41053043 intron variant C/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs121434562
rs121434562 		20 41101297 missense variant G/A snv
CUI: C4016020
Disease: DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 		0.700 0
dbSNP: rs6072249
rs6072249 		1.000 0.080 20 41027702 upstream gene variant A/G snv 0.57
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016