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.
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
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
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
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2019 2019
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
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
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2015 2015
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
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
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1 2019 2019
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
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
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
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.030 1.000 3 2008 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.030 1.000 3 2008 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 1.000 4 2008 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 1.000 4 2008 2016
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 0.750 4 2007 2014