Variant: rs1553437083

present in Gene: RAB3GAP1 present in Chromosome: 2 Position on Chromosome: 135052315 Alleles of this Variant: C/-

rs1553437083 in RAB3GAP1 gene and Martsolf syndrome PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.