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: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.100 0.875 16 2005 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.100 1.000 11 2005 2016
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.100 1.000 11 2005 2016
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.090 1.000 9 2005 2016
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.889 9 2007 2018
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.070 1.000 7 2005 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.070 1.000 7 2005 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.070 1.000 7 2005 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.050 0.800 5 2007 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.800 5 2007 2019
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 0.750 4 2007 2014
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 1.000 4 2008 2016
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2008 2016
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2008 2014
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2008 2014
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 1.000 2 2004 2012
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0279651
Disease: Gallbladder adenocarcinoma
Gallbladder adenocarcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2012 2012
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		0.010 1.000 1 2018 2018
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		0.010 1.000 1 2011 2011
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2009 2009
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011