rs2228001, XPC

N. diseases: 60
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 0.875 16 2005 2019
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 1.000 11 2005 2016
Malignant neoplasm of urinary bladder
316 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 1.000 11 2005 2016
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.090 1.000 9 2005 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.090 0.889 9 2007 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.070 1.000 7 2005 2019
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.070 1.000 7 2005 2019
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.070 1.000 7 2005 2019
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.050 0.800 5 2007 2019
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.050 0.800 5 2007 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 1.000 4 2008 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 1.000 4 2008 2016
Malignant neoplasm of colon and/or rectum
502 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 0.750 4 2007 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.030 1.000 3 2008 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.030 1.000 3 2008 2014
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
47 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.020 1.000 2 2004 2012
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2015 2015
Carcinoma of urinary bladder, invasive
14 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2018 2018
Carcinoma of urinary bladder, superficial
6 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013
Carcinoma, Small Cell
CUI: C0262584
Disease: Carcinoma, Small Cell
7 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2005 2005
cervical cancer
CUI: C4048328
Disease: cervical cancer
268 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2015 2015