TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Thrombocythemia, Essential ×
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.030 1.000 3 2015 2018