TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Glioma ×
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: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.900 0.889 18 2009 2020
dbSNP: rs2853676
rs2853676 		0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.840 1.000 6 2009 2017
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 3 2015 2018
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2853677
rs2853677 		0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2012 2012