Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs929424117
rs929424117
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE Genetic investigation shows that both patients were carriers of an homozygous T to C transition at the nucleotide position c.2333, causing the leucine to proline amino acid change at the position 778 (p.Leu778Pro) of the <i>ERCC5</i> gene, and resulting in an XP-G phenotype. 30838033

2019