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: 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: rs387907249
rs387907249 		1.000 5 1278781 missense variant C/T snv
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs387907250
rs387907250 		1.000 5 1264542 missense variant 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 		0.800 1.000 5 2005 2012
dbSNP: rs387907251
rs387907251 		1.000 5 1264479 missense variant G/A snv 4.0E-06
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs4449583
rs4449583 		5 1284020 intron variant C/T snv 0.25
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2016 2018
dbSNP: rs4449583
rs4449583 		5 1284020 intron variant C/T snv 0.25
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2018
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: 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: rs4449583
rs4449583 		5 1284020 intron variant C/T snv 0.25
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs4449583
rs4449583 		5 1284020 intron variant C/T snv 0.25
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs4449583
rs4449583 		5 1284020 intron variant C/T snv 0.25
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs770066110
rs770066110 		1.000 5 1272247 stop gained G/A;T snv 5.3E-05; 4.0E-06
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2018 2018
dbSNP: rs7712562
rs7712562 		5 1295957 upstream gene variant A/G snv 0.88
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs776981958
rs776981958 		0.925 5 1279370 missense variant T/C snv 1.6E-04 1.3E-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 1 2018 2018
dbSNP: rs776981958
rs776981958 		0.925 5 1279370 missense variant T/C snv 1.6E-04 1.3E-04
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		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: rs1554043041
rs1554043041 		1.000 5 1294306 stop gained GG/AA mnv
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 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
dbSNP: rs201159197
rs201159197 		1.000 5 1266519 missense variant C/A;T snv 4.1E-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 0
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: rs797046042
rs797046042 		1.000 5 1279431 missense variant C/G;T snv 6.5E-06; 6.5E-06
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs878855300
rs878855300 		1.000 5 1279323 stop gained G/A snv
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
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: 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: rs141425941
rs141425941 		0.925 0.040 5 1272196 missense variant C/T snv 9.0E-05 1.5E-04
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011