TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Glioblastoma Multiforme ×
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: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.710 1.000 3 2015 2018
dbSNP: rs72709458
rs72709458 		0.882 0.040 5 1283640 intron variant C/A;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 1.000 2 2011 2015
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2853669
rs2853669 		0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2015 2015