TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Leukemia, Myelocytic, Acute ×
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: rs797046041
rs797046041 		1.000 0.040 5 1282578 missense variant G/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs35719940
rs35719940 		0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2853669
rs2853669 		0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015