rs121918521, ATP6AP2

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, with Epilepsy
CUI: C1845543
Disease: Mental Retardation, X-Linked, with Epilepsy
0.700 CausalMutation CLINVAR
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
0.010 GeneticVariation BEFREE Another synonymous mutation in the same exon, c.321C>T (p.D107D), has a similar molecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH). 23595882 2013