RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554263624
rs1554263624
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345 2017
dbSNP: rs1554263624
rs1554263624
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		G 0.800 CausalMutation CLINVAR