TERT, telomerase reverse transcriptase, 7015

N. diseases: 72; N. variants: 75
Source: CURATED ×
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: rs10069690
rs10069690
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 1 2016 2017
dbSNP: rs7705526
rs7705526
0.776 0.240 5 1285859 intron variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7725218
rs7725218
0.708 0.280 5 1282299 intron variant G/A snv 0.38
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2016 2016