TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Acquired aplastic anemia ×
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: rs199422295
rs199422295 		0.882 0.120 5 1279376 missense variant C/T snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006