Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228001
rs2228001
XPC
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 GeneticVariation BEFREE We found that all studied polymorphisms were individually associated with increased overall cancer risks, as shown by ORs (95% CIs) below: the Lys939Gln (Gln/Gln vs. Lys/Lys: OR = 1.39, 95% CI = 1.08-1.79; recessive model: OR = 1.42, 95% CI = 1.11-1.83; and allele comparing: OR = 1.12, 95% CI = 1.003-1.24), the Ala499Val (Val/Val vs. Ala/Ala: OR = 1.82, 95% CI = 1.19-2.79; recessive model: OR = 1.70, 95% CI = 1.18-2.46; and allele comparing: OR = 1.23, 95% CI = 1.01-1.50), and the PAT-/+ (+/+ vs. -/-: OR = 1.36, 95% CI = 1.03-1.79 and recessive model: OR = 1.34, 95% CI = 1.06-1.70). 23918308

2014

dbSNP: rs2228001
rs2228001
XPC
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 GeneticVariation BEFREE Overall, Lys939Gln was significantly associated with an increased overall cancer risk (Gln/Gln vs. Lys/Lys: OR = 1.16, 95% CI = 1.07 - 1.25, p < 0.001; recessive model: OR = 1.14, 95% CI = 1.06 - 1.22, p < 0.001; dominant model: OR = 1.06, 95% CI = 1.01 - 1.11, p = 0.015 and Gln vs. Lys: OR = 1.07, 95% CI = 1.03 - 1.10, p < 0.001) and further stratifications showed an increased risk for bladder, lung and colorectal cancer, Asian populations and population-based studies. 23400628

2013

dbSNP: rs2228001
rs2228001
XPC
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 GeneticVariation BEFREE These analyses suggest that XPC Lys(939)Gln, PAT+/- and Ala(499)Val likely contribute to susceptibility to cancers. 18771913

2008