Gene: UPF3B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122468182
rs122468182
UPF3B
0.800 GeneticVariation UNIPROT

dbSNP: rs122468182
rs122468182
UPF3B
C 0.800 CausalMutation CLINVAR

dbSNP: rs1064794254
rs1064794254
UPF3B
C 0.700 CausalMutation CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145

2012
dbSNP: rs1064794254
rs1064794254
UPF3B
C 0.700 CausalMutation CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151

2010
dbSNP: rs1064794254
rs1064794254
UPF3B
C 0.700 CausalMutation CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007
dbSNP: rs122468181
rs122468181
UPF3B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1556377028
rs1556377028
UPF3B
C 0.700 CausalMutation CLINVAR

dbSNP: rs794727881
rs794727881
UPF3B
T 0.700 CausalMutation CLINVAR