Variant: rs1282248700 

    present in Gene: RAB3GAP1
    present in Chromosome: 2
    Position on Chromosome: 135133919
    Alleles of this Variant: GT/-

rs1282248700 in RAB3GAP1 gene and Dysmorphic features PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

rs1282248700 in RAB3GAP1 gene and Multiple congenital anomalies PMID 15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.