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.
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
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2005 2005
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1 2005 2005
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2007 2007
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
31 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2007 2007
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2008 2008
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2008 2008
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
Carcinoma of urinary bladder, superficial
CUI: C1336527
Disease: 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
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
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
245 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Xeroderma
CUI: C0043345
Disease: Xeroderma
1 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
Gallbladder adenocarcinoma
CUI: C0279651
Disease: Gallbladder adenocarcinoma
2 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
75 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
81 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
56 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Stage IIA Gallbladder Cancer AJCC v8
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
56 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Stage IIB Gallbladder Cancer AJCC v8
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
56 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Stage III Gallbladder Cancer AJCC v8
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
56 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
56 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
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