rs746250060, XPC

N. diseases: 1
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
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.700 GeneticVariation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512 2006