rs2228000, XPC

N. diseases: 53
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.
Squamous cell carcinoma of esophagus
329 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2008 2008
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
Oligospermia
CUI: C0028960
Disease: Oligospermia
72 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
Gallbladder adenocarcinoma
CUI: C0279651
Disease: Gallbladder adenocarcinoma
2 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
75 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
81 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Rectal Carcinoma
CUI: C0007113
Disease: Rectal Carcinoma
112 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1 2011 2011
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
56 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Stage IIA Gallbladder Cancer AJCC v8
56 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Stage IIB Gallbladder Cancer AJCC v8
56 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Stage III Gallbladder Cancer AJCC v8
56 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
56 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
melanoma
CUI: C0025202
Disease: melanoma
515 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2013 2013
Squamous cell carcinoma of oropharynx
33 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2013 2013
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2013 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.040 0.500 4 2012 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.040 0.500 4 2012 2014
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.040 0.500 4 2012 2014
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1 2014 2014
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1 2014 2014
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2014 2014
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2014 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.050 0.800 5 2011 2015
Malignant neoplasm of colon and/or rectum
502 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 1.000 2 2014 2015
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 1.000 2 2012 2015