TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 ×
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: rs121918661
rs121918661 		0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs121918662
rs121918662 		0.882 0.120 5 1279341 missense variant C/T snv 7.0E-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: rs121918663
rs121918663 		0.925 0.120 5 1272252 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: rs121918666
rs121918666 		0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-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: 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: 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: 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: rs199422294
rs199422294 		0.827 0.160 5 1280216 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 		0.700 1.000 1 2018 2018
dbSNP: rs776981958
rs776981958 		0.925 5 1279370 missense variant T/C snv 1.6E-04 1.3E-04
CUI: 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: rs111576740
rs111576740 		0.925 0.120 5 1266537 splice acceptor variant T/C;G 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 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: rs199422300
rs199422300 		0.925 0.120 5 1278687 frameshift variant A/- del
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: rs199422309
rs199422309 		0.925 0.120 5 1294770 splice donor 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 		0.700 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: rs34094720
rs34094720 		0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 0
dbSNP: rs387907247
rs387907247 		0.925 0.120 5 1294826 missense variant A/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 		0.700 0