TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Papillary thyroid carcinoma ×
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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.030 1.000 3 2016 2019
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.020 1.000 2 2019 2019
dbSNP: rs2735943
rs2735943 		1.000 0.080 5 1295089 upstream gene variant G/A snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs33954691
rs33954691 		1.000 0.080 5 1255405 synonymous variant G/A snv 0.13 9.0E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019