Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691154
rs1131691154
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases. 24506781

2014
dbSNP: rs1131691154
rs1131691154
ATM
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. 22006793

2012