Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554263326
rs1554263326
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345

2017
dbSNP: rs1554263326
rs1554263326
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1554263624
rs1554263624
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345

2017
dbSNP: rs1554263624
rs1554263624
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1554263625
rs1554263625
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345

2017
dbSNP: rs1554263625
rs1554263625
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1554263625
rs1554263625
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1554263626
rs1554263626
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345

2017
dbSNP: rs1554263626
rs1554263626
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1554264268
rs1554264268
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.800 GeneticVariation UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345

2017
dbSNP: rs1554264268
rs1554264268
RAC1
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
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
RAC1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
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
RAC1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
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
RAC1
CUI: C0553723
Disease: Squamous cell carcinoma of skin
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
RAC1
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
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
RAC1
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
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
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519948
rs1057519948
RAC1
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
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
dbSNP: rs1057519948
rs1057519948
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519948
rs1057519948
RAC1
CUI: C0553723
Disease: Squamous cell carcinoma of skin
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: rs1057519948
rs1057519948
RAC1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs35589149
rs35589149
RAC1
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019