RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: Omenn Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564997121
rs1564997121
Entrez Id: 5897;119710
Gene Symbol: RAG2;IFTAP
RAG2;IFTAP
CUI: C2700553
Disease:
Omenn Syndrome 		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