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: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2014 2015
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2014 2015
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2014 2015
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		0.010 1.000 1 2016 2016
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2006 2006
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2017 2017
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2017 2017
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2018 2018
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2018 2018