Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908735
rs121908735
ADA
A 0.700 CausalMutation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908735
rs121908735
ADA
A 0.700 CausalMutation CLINVAR Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 22447032

2012
dbSNP: rs121908735
rs121908735
ADA
A 0.700 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998