Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864321625
rs864321625
TNFAIP3
A 0.700 CausalMutation CLINVAR

dbSNP: rs864321626
rs864321626
TNFAIP3
T 0.700 CausalMutation CLINVAR

dbSNP: rs864321682
rs864321682
TNFAIP3
A 0.700 CausalMutation CLINVAR

dbSNP: rs864321683
rs864321683
TNFAIP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs864321684
rs864321684
TNFAIP3
G 0.700 CausalMutation CLINVAR

dbSNP: rs864321685
rs864321685
TNFAIP3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1423560438
rs1423560438
TNFAIP3
0.010 GeneticVariation BEFREE We report on a patient with a unique coinheritance of pathogenic variants in IL36RN (c.115+6T>C) and TNFAIP3 (c.547C>T, p.R183*) causing the genetic entities GPP and familial Behçet-like autoinflammatory syndrome (AISBL). 31353537

2019