Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 ×
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: rs786205702
rs786205702 		1.000 20 63695093 missense variant A/C snv
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.800 0
dbSNP: rs201540674
rs201540674 		0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 6 2013 2015
dbSNP: rs370343781
rs370343781 		0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 5 2009 2016
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 4 2013 2017
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 4 2013 2017
dbSNP: rs1177091623
rs1177091623 		1.000 20 63689563 missense variant C/T snv 4.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs1449687529
rs1449687529 		0.882 0.120 20 63692960 frameshift variant C/- delins 7.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs146221660
rs146221660 		0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs1555811762
rs1555811762 		1.000 20 63689628 stop gained C/T snv
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs1555899932
rs1555899932 		0.925 20 63662886 stop gained G/T snv
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs776744306
rs776744306 		0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs786205700
rs786205700 		1.000 20 63687740 missense variant C/T snv 7.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs863223336
rs863223336 		1.000 20 63666066 frameshift variant G/- delins
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs863225053
rs863225053 		0.925 0.040 20 63690162 inframe deletion ATGTCATCC/- delins
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs961593162
rs961593162 		0.925 20 63691799 stop gained C/T snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0