rs861539, KLC1;XRCC3

N. diseases: 104
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.010 GeneticVariation BEFREE Using genomic DNA extracted from blood samples, we identified wild-type and polymorphic variants of XPD (Arg156Arg and Lys751Gln), XRCC1 (Arg194Trp and Arg399Gln) and XRCC3 (Thr241Met), and the poly (AT) insertion/deletion of XPC (PAT). 15878910 2005