Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852763
rs137852763
MRE11
0.020 GeneticVariation BEFREE This is the biggest ATLD group of patients that may suggest noticeable heterozygous carriers of G630C mutation in the general population. 18652530

2008
dbSNP: rs137852763
rs137852763
MRE11
0.020 GeneticVariation BEFREE Saccadic dysfunction without head thrusts and convergence abnormality are common in ATLD secondary to homozygous W210C MRE11 mutation. 18083591

2008