Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939089
rs28939089
PSTPIP1
0.010 GeneticVariation BEFREE Two mutations (A230T and E250Q) in the PSTPIP1 gene, encoding proline-serine-threonine phosphatase-interacting protein (PSTPIP)1 have been identified in patients with PAPA (pyogenic sterile arthritis with PG and acne) syndrome, a rare autoinflammatory disorder with autosomal dominant inheritance. 21790734

2011