Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010