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: rs1554043088
rs1554043088
TERT
1.000 0.080 5 1294548 frameshift variant -/C delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs3215401
rs3215401
TERT
1.000 0.080 5 1296140 upstream gene variant -/G delins 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 2 2017 2017
dbSNP: rs1060502990
rs1060502990
TERT
0.925 0.040 5 1294549 frameshift variant -/G delins
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 0
dbSNP: rs1060502990
rs1060502990
TERT
0.925 0.040 5 1294549 frameshift variant -/G delins
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs199422300
rs199422300
TERT
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: rs199422300
rs199422300
TERT
0.925 0.120 5 1278687 frameshift variant A/- del
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.740 0.800 5 2016 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 1.000 4 2015 2017
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2015 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2016 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2015 2018
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.333 3 2017 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.333 3 2017 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 3 2019 2019
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 1.000 3 2013 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2013 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2015 2015