rs758439420, ERCC2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
0.700 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098 2012