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: rs2853691
rs2853691 		0.925 0.120 5 1252835 intron variant T/C snv 0.45
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2853691
rs2853691 		0.925 0.120 5 1252835 intron variant T/C snv 0.45
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs199422308
rs199422308 		1.000 0.120 5 1253546 3 prime UTR variant TCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGGGCCGCCCCTCCCTCCCTGGGACGTAGAGCCCGGCGTGACAGGGCTGCTGGTGTCTGCTCTCGGCCTGGCTGTGGGCGGGTGGCC/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554038048
rs1554038048 		1.000 5 1253728 stop lost T/C snv
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 1 2018 2018
dbSNP: rs1176273130
rs1176273130 		1.000 5 1253748 missense variant A/G snv
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
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: rs121918664
rs121918664 		0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918664
rs121918664 		0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918664
rs121918664 		0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs35719940
rs35719940 		0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs35719940
rs35719940 		0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35719940
rs35719940 		0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs373400596
rs373400596 		1.000 0.120 5 1255294 missense variant C/G snv 9.3E-05 4.2E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554038257
rs1554038257 		0.925 0.040 5 1255333 frameshift variant GA/- delins
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1554038257
rs1554038257 		0.925 0.040 5 1255333 frameshift variant GA/- delins
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs199422307
rs199422307 		1.000 0.120 5 1255401 missense variant A/G snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33954691
rs33954691 		1.000 0.080 5 1255405 synonymous variant G/A snv 0.13 9.0E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 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
dbSNP: rs2736122
rs2736122 		5 1257506 intron variant G/A snv 0.23
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2736118
rs2736118 		0.882 0.120 5 1260080 intron variant T/C snv 0.33
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2736118
rs2736118 		0.882 0.120 5 1260080 intron variant T/C snv 0.33
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2736118
rs2736118 		0.882 0.120 5 1260080 intron variant T/C snv 0.33
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2736118
rs2736118 		0.882 0.120 5 1260080 intron variant T/C snv 0.33
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs765566930
rs765566930 		1.000 5 1260508 missense variant C/T snv
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs199422305
rs199422305 		1.000 5 1260509 missense variant G/A snv
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0