Source: CURATED

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: 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: 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: 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: 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: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		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: 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: 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: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis 		0.700 0