Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043118
rs886043118
A 0.700 CausalMutation CLINVAR A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 27117246

2018

dbSNP: rs886043118
rs886043118
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1426488816
rs1426488816
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564691414
rs1564691414
FAS
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397518423
rs397518423
A 0.700 CausalMutation CLINVAR

dbSNP: rs387907272
rs387907272
0.010 GeneticVariation BEFREE Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with adenopathy (P < .01), further delineating differences in disease tropism based on CXCR4 status. 24553177

2014