Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893674
rs104893674
ZAP70
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853201
rs137853201
ZAP70
A 0.700 CausalMutation CLINVAR

dbSNP: rs730880318
rs730880318
ZAP70
A 0.700 CausalMutation CLINVAR

dbSNP: rs730880319
rs730880319
ZAP70
T 0.700 CausalMutation CLINVAR

dbSNP: rs111033618
rs111033618
IL2RG
0.010 GeneticVariation BEFREE IL2RG(R222C) leads to atypical SCID with a severe early onset phenotype despite largely normal NK- and T-cell numbers. 25042067

2014
dbSNP: rs104894287
rs104894287
RAG1 ; RAG2
0.010 GeneticVariation BEFREE These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. 18592361

2008