Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908721
rs121908721
ADA ; PKIG
0.710 GeneticVariation BEFREE In addition, our computational analysis showed that the H15D, G140E, G216R, and S291L mutations identified as being associated with severe combined immunodeficiency affect protein structure. 31781678

2019
dbSNP: rs121908721
rs121908721
ADA ; PKIG
C 0.710 GeneticVariation CLINVAR

dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 27484032

2016
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: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. 25869295

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

2012
dbSNP: rs1555844617
rs1555844617
ADA
CT 0.700 GeneticVariation CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875

2011
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421

2010
dbSNP: rs751635016
rs751635016
ADA ; PKIG
T 0.700 CausalMutation CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314

2009
dbSNP: rs1057520020
rs1057520020
JAK3
T 0.700 GeneticVariation CLINVAR Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. 18559588

2008
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR An immunodeficiency disease with RAG mutations and granulomas. 18463379

2008
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. 18768869

2008
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 17572155

2007
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase. 11971977

2002
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
A 0.700 CausalMutation CLINVAR The genetic and biochemical basis of Omenn syndrome. 11213808

2000
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
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743321
rs1555743321
JAK3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555908409
rs1555908409
RAC2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1561424886
rs1561424886
IL7R
G 0.700 CausalMutation CLINVAR

dbSNP: rs193922348
rs193922348
IL2RG
G 0.700 CausalMutation CLINVAR

dbSNP: rs193922361
rs193922361
JAK3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922362
rs193922362
JAK3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922364
rs193922364
JAK3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922462
rs193922462
RAG1 ; RAG2
T 0.700 GeneticVariation CLINVAR