Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116040763
rs116040763
RIPK1 ; LOC107986556
T 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564

2019
dbSNP: rs1561772403
rs1561772403
RIPK1
T 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564

2019
dbSNP: rs1561780980
rs1561780980
RIPK1 ; LOC107986556
A 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564

2019
dbSNP: rs374657927
rs374657927
RIPK1 ; LOC107986556
A 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564

2019
dbSNP: rs752183065
rs752183065
RIPK1 ; LOC107986556
C 0.700 CausalMutation CLINVAR Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 30591564

2019
dbSNP: rs1204766339
rs1204766339
RAG1 ; RAG2 ; IFTAP
G 0.700 GeneticVariation CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731

2015
dbSNP: rs1564997563
rs1564997563
RAG2 ; IFTAP
T 0.700 GeneticVariation CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731

2015
dbSNP: rs1204766339
rs1204766339
RAG1 ; RAG2 ; IFTAP
G 0.700 GeneticVariation CLINVAR A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. 22841008

2012
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. 23243423

2012
dbSNP: rs1564997121
rs1564997121
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848

2011
dbSNP: rs762407838
rs762407838
RAG2 ; IFTAP
T 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235

2011
dbSNP: rs773710101
rs773710101
RAG1 ; RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235

2011
dbSNP: rs909264507
rs909264507
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848

2011
dbSNP: rs1564995611
rs1564995611
RAG1 ; RAG2 ; IFTAP
T 0.700 GeneticVariation CLINVAR Omenn syndrome due to mutation of the RAG2 gene. 19470080

2009
dbSNP: rs121918574
rs121918574
RAG2 ; IFTAP
T 0.700 GeneticVariation CLINVAR An immunodeficiency disease with RAG mutations and granulomas. 18463379

2008
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR RAG-dependent primary immunodeficiencies. 16960852

2006
dbSNP: rs754413772
rs754413772
RAG1 ; RAG2 ; IFTAP
G 0.700 GeneticVariation CLINVAR RAG-dependent primary immunodeficiencies. 16960852

2006
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. 15025726

2004
dbSNP: rs1564995627
rs1564995627
RAG1 ; RAG2 ; IFTAP
T 0.700 GeneticVariation CLINVAR The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. 12200379

2002
dbSNP: rs121917895
rs121917895
RAG2 ; IFTAP
C 0.700 GeneticVariation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745

2001
dbSNP: rs121917896
rs121917896
RAG2 ; IFTAP
C 0.700 GeneticVariation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745

2001
dbSNP: rs121917897
rs121917897
RAG2 ; IFTAP
C 0.700 GeneticVariation CLINVAR Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 11313270

2001
dbSNP: rs148508754
rs148508754
RAG2 ; IFTAP
A 0.700 GeneticVariation CLINVAR Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 11313270

2001
dbSNP: rs1564995627
rs1564995627
RAG1 ; RAG2 ; IFTAP
T 0.700 GeneticVariation CLINVAR Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. 10891502

2000
dbSNP: rs1064793251
rs1064793251
RAG2 ; IFTAP
T 0.700 CausalMutation CLINVAR