rs368568228, GRIA3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, X-LINKED 94 (disorder)
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
0.700 GeneticVariation UNIPROT
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
0.010 GeneticVariation BEFREE We identified a genomic deletion (0.4 Mb) involving the entire GRIA3 (encoding iGluR3) by using an X-array comparative genomic hybridization (CGH) and four missense variants (G833R, M706T, R631S, and R450Q) in functional domains of iGluR3 by sequencing 400 males with X-linked mental retardation (XLMR). 17989220 2007