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: rs139996880
rs139996880
0.882 0.120 5 1284538 intron variant G/A snv 0.12
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2736098
rs2736098
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2853676
rs2853676
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2011 2011