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
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
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
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 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 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
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
Myoma
CUI: C0027086
Disease: Myoma
4 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
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
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2018 2018
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
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2015 2015
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016