Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167891
rs1114167891
OGT
0.010 GeneticVariation BEFREE Here, we report on two hemizygous mutations in <i>OGT</i> in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). 28584052

2017