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: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.020 1.000 2 2011 2012
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 1.000 1 2016 2016
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs755174338
rs755174338
ERCC2
0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016