Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852761
rs137852761
A 0.710 CausalMutation CLINVAR

dbSNP: rs137852761
rs137852761
0.710 GeneticVariation BEFREE Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations. 15269180

2004