Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894418
rs104894418
0.710 GeneticVariation BEFREE Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation. 15333585

2004

dbSNP: rs104894418
rs104894418
A 0.710 CausalMutation CLINVAR