TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
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: rs141425941
rs141425941
0.925 0.040 5 1272196 missense variant C/T snv 9.0E-05 1.5E-04
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
Respiratory Tract Diseases 0.010 1.000 1 2011 2011