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 		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: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.020 GeneticVariation BEFREE Patients with inflammatory bowel disease who had the rs10951982 risk allele had increased expression of RAC1 compared to those without this allele. 21684284 2011
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE We observed a genetic association between RAC1 with ulcerative colitis in a discovery cohort, 2 independent replication cohorts, and in combined analysis for the single nucleotide polymorphisms rs10951982 (P(combined UC) = 3.3 × 10(-8), odds ratio = 1.43 [95% confidence interval: 1.26-1.63]) and rs4720672 (P(combined UC) = 4.7 × 10(-6), odds ratio = 1.36 [95% confidence interval: 1.19-1.58]). 21684284 2011
dbSNP: rs4720672
rs4720672
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE We observed a genetic association between RAC1 with ulcerative colitis in a discovery cohort, 2 independent replication cohorts, and in combined analysis for the single nucleotide polymorphisms rs10951982 (P(combined UC) = 3.3 × 10(-8), odds ratio = 1.43 [95% confidence interval: 1.26-1.63]) and rs4720672 (P(combined UC) = 4.7 × 10(-6), odds ratio = 1.36 [95% confidence interval: 1.19-1.58]). 21684284 2011
dbSNP: rs836474
rs836474
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma 		0.070 GeneticVariation BEFREE The melanoma RAC1(P29S) gain-of-function point mutation therefore represents a previously undescribed class of cancer-related GTPase activity. 23284172 2013
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: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma 		0.070 GeneticVariation BEFREE Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. 25043693 2014
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma 		0.070 GeneticVariation BEFREE Conversely, RNAi-mediated silencing of endogenous RAC1 P29S in a melanoma cell line with a co-occurring BRAF V600 mutation increased sensitivity to vemurafenib and dabrafenib. 25056119 2014
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Enforced expression of RAC1 P29S in sensitive BRAF-mutant melanoma cell lines confers resistance manifested by increased viability, decreased apoptosis, and enhanced tumor growth in vivo upon treatment with RAF inhibitors. 25056119 2014
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma 		0.070 GeneticVariation BEFREE RAC1 is a GTPase member of the RAS superfamily, and RAC1(P29S) was recently identified as the third most common recurrent mutation in melanomas, affecting 4-7% of the patients. 25465943 2015
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.020 GeneticVariation BEFREE Children with IBD treated with thiopurines were prospectively followed for 1 year and were genotyped for 3 Rac1 SNPs previously found to be relevant to IBD: rs10951982, rs4720672, and rs34932801. 25885881 2015
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma 		0.070 GeneticVariation BEFREE RAC1 P29S regulates PD-L1 expression in melanoma. 26176707 2015
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: 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