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.
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
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.090 1.000 9 2006 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.050 1.000 5 2008 2019
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.100 1.000 10 2006 2016
Carcinoma of larynx
CUI: C0595989
Disease: Carcinoma of larynx
65 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2015 2015
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
Cataract
CUI: C0086543
Disease: Cataract
124 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
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
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
Fibroid Tumor
CUI: C0023267
Disease: Fibroid Tumor
14 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
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
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
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2017 2017
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.050 1.000 5 2008 2019
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: 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 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
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
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2018 2018
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