Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs137852761
rs137852761
A 0.710 CausalMutation CLINVAR