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.
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
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
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
Squamous cell carcinoma of oropharynx
CUI: C0280313
Disease: 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
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
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
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
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
CUI: C4525300
Disease: 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
CUI: C4525301
Disease: 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
CUI: C4525302
Disease: 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
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
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 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
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.090 0.889 9 2008 2019
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
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
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
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
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