Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793347
rs1064793347
IL2RG ; CXorf65
0.010 GeneticVariation BEFREE The IL2RG R328X nonsense mutation allows partial STAT5 phosphorylation and defines a critical region involved in leaky-SCID phenotype. 31799703

2020