TAPBP, TAP binding protein, 6892

N. diseases: 86; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2282851
rs2282851
Entrez Id: 6892
Gene Symbol: TAPBP
TAPBP
CUI: C0010278
Disease:
Craniosynostosis
0.010 GeneticVariation BEFREE Major allele homozygosity for CD8A (rs3810831) was associated with a higher frequency of affected relatives (p = 0.052), increased severity as characterized by age at diagnosis (p = 0.009), age at first surgery (p = 0.004), and number of surgeries (p = 0.008), whereas TAPBP (rs2282851) was associated increased risk for CRS (odds ratio [OR] = 2.48, p = 0.0076). 23640800 2013