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.
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
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
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
progesterone receptor-negative breast cancer
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
11 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2016 2016
Carcinoma of urinary bladder, invasive
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
14 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2018 2018
Fibroid Tumor
CUI: C0023267
Disease: Fibroid Tumor
14 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1 2019 2019
progesterone receptor-positive breast cancer
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
17 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2016 2016
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
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2018 2018
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2012 2012
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
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
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
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
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
Differentiated Thyroid Gland Carcinoma
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
80 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013
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
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 0.875 16 2005 2019