Gene: APTX ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1335702493
rs1335702493
APTX
0.010 GeneticVariation BEFREE The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia. 21324166

2011