Source: BEFREE

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: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 1.000 5 2012 2017
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2012 2017
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		0.040 1.000 4 2016 2017
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 1.000 3 2012 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.030 1.000 3 2012 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2013 2015
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2013 2014
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2015 2015
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2015 2015
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2012 2012