Disease: Skin Manifestations ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913019
rs121913019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0037285
Disease:
Skin Manifestations 		0.010 GeneticVariation BEFREE Her mild skin manifestations might be attributed to the mutational site on her genome and daily strict sun protection. c.1621A>C might be a founder mutation of ERCC2 among Japanese XP-D patients, as it was identified most frequently in Japanese XP-D patients and it has not been found elsewhere outside Japan. 26993158 2016