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: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.710 1.000 3 2015 2018
dbSNP: rs2242652
rs2242652 		0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.710 1.000 3 2011 2018
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 2 2016 2017
dbSNP: rs2242652
rs2242652 		0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.710 1.000 2 2011 2013
dbSNP: rs2242652
rs2242652 		0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2013 2016
dbSNP: rs7726159
rs7726159 		0.790 0.160 5 1282204 intron variant C/A snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2015 2016
dbSNP: rs121918664
rs121918664 		0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 1.000 5 2005 2012
dbSNP: rs141425941
rs141425941 		0.925 0.040 5 1272196 missense variant C/T snv 9.0E-05 1.5E-04
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 1.000 5 2005 2012
dbSNP: rs387907248
rs387907248 		1.000 5 1294378 missense variant C/T snv 5.4E-06
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 1.000 5 2005 2012
dbSNP: rs121918661
rs121918661 		0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2009
dbSNP: rs121918662
rs121918662 		0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2009
dbSNP: rs483352771
rs483352771 		1.000 0.040 5 1272213 missense variant G/A;C;T snv 4.0E-06; 1.2E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2009
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 3 2015 2018
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940 		0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 3 2019 2019
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs1554040964
rs1554040964 		1.000 0.080 5 1279417 missense variant C/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2013 2017