rs2234649, TNFRSF1A

N. diseases: 3
Disease: Incontinentia Pigmenti Achromians ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Incontinentia Pigmenti Achromians
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
0.010 GeneticVariation BEFREE Three SNPs were genotyped in 275 individuals (144 immunocompromised haematological patients with high-risk of developing IPA and 131 healthy controls): TNFR1(-383(A/C)) (rs2234649) and TNFR1(-609(G/T)) (rs4149570) in the 5 prime UTR region, and TNFR1(+36(A/G)) SNP (rs767455) in the first exon of the gene. 20646338 2010