RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554263326
rs1554263326
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
0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345 2017
dbSNP: rs1554263625
rs1554263625
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: rs1554263626
rs1554263626
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: rs1554264268
rs1554264268
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: rs1554263326
rs1554263326
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554263624
rs1554263624
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
G 0.800 CausalMutation CLINVAR
dbSNP: rs1554263625
rs1554263625
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
C 0.800 CausalMutation CLINVAR
dbSNP: rs1554263625
rs1554263625
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554263626
rs1554263626
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
G 0.800 CausalMutation CLINVAR
dbSNP: rs1554264268
rs1554264268
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C4540321
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0151779
Disease:
Cutaneous Melanoma
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0151779
Disease:
Cutaneous Melanoma
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0151779
Disease:
Cutaneous Melanoma
0.710 GeneticVariation BEFREE Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. 25043693 2014
dbSNP: rs35589149
rs35589149
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35761891
rs35761891
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7784465
rs7784465
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C1305855
Disease:
Body mass index
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs836489
rs836489
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0751676
Disease:
Basal Cell Cancer
G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs836489
rs836489
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0206710
Disease:
Basal Cell Neoplasm
G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs836489
rs836489
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0007117
Disease:
Basal cell carcinoma
G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0553723
Disease:
Squamous cell carcinoma of skin
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016