Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881391
rs730881391
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs730881391
rs730881391
ATM
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507

1999