Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520

2013
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. 23176487

2012
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 20512159

2010
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. 15696165

2005