Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553915580
rs1553915580
TERC
1.000 3 169764653 non coding transcript exon variant GA/TT mnv
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		0.700 1.000 1 2018 2018
dbSNP: rs1553915612
rs1553915612
TERC
1.000 3 169764936 non coding transcript exon variant CCGC/- delins
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		0.700 1.000 1 2018 2018
dbSNP: rs1553915617
rs1553915617
TERC
1.000 3 169764954 non coding transcript exon variant C/A snv
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		0.700 1.000 1 2018 2018
dbSNP: rs1553915621
rs1553915621
TERC
1.000 3 169764986 non coding transcript exon variant -/GCGCCT delins
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		0.700 1.000 1 2018 2018
dbSNP: rs2293607
rs2293607
TERC
0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs2293607
rs2293607
TERC
0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs1553915517
rs1553915517
TERC
0.925 0.120 3 169763863 non coding transcript exon variant AAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGTTCCT/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs1553915517
rs1553915517
TERC
0.925 0.120 3 169763863 non coding transcript exon variant AAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGTTCCT/- delins
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		0.700 0
dbSNP: rs1553915577
rs1553915577
TERC
1.000 0.120 3 169764618 non coding transcript exon variant G/T snv
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		0.700 0
dbSNP: rs1553915591
rs1553915591
TERC
1.000 0.120 3 169764755 non coding transcript exon variant A/C snv
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		0.700 0
dbSNP: rs199422255
rs199422255
TERC
1.000 0.120 3 169765299 upstream gene variant AG/- delins 1.0E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422256
rs199422256
TERC
1.000 0.120 3 169765160 upstream gene variant G/A;C snv 5.7E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422257
rs199422257
TERC
1.000 0.120 3 169765059 non coding transcript exon variant C/G;T snv 4.4E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422259
rs199422259
TERC
1.000 0.120 3 169765027 non coding transcript exon variant ACCACCC/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422260
rs199422260
TERC
1.000 0.120 3 169765026 non coding transcript exon variant G/A snv 2.2E-05 1.4E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422262
rs199422262
TERC
1.000 0.120 3 169765013 non coding transcript exon variant T/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422263
rs199422263
TERC
0.925 0.120 3 169765004 non coding transcript exon variant TTAG/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422263
rs199422263
TERC
0.925 0.120 3 169765004 non coding transcript exon variant TTAG/- delins
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		0.700 0
dbSNP: rs199422264
rs199422264
TERC
1.000 0.120 3 169764974 non coding transcript exon variant AGCAAAAGCACGGCGCCTACGCCCTTCTCAGTTAG/- delins
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422265
rs199422265
TERC
0.925 0.120 3 169764989 non coding transcript exon variant G/A;C snv 4.3E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422265
rs199422265
TERC
0.925 0.120 3 169764989 non coding transcript exon variant G/A;C snv 4.3E-06
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		0.700 0
dbSNP: rs199422266
rs199422266
TERC
1.000 0.120 3 169764982 non coding transcript exon variant G/- del
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422267
rs199422267
TERC
1.000 0.120 3 169764964 non coding transcript exon variant AG/- del
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422268
rs199422268
TERC
0.925 0.120 3 169764963 non coding transcript exon variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422268
rs199422268
TERC
0.925 0.120 3 169764963 non coding transcript exon variant C/T snv
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		0.700 0