Variant: rs121434310

present in Gene: RAB3GAP2 present in Chromosome: 1 Position on Chromosome: 220164733 Alleles of this Variant: C/A

rs121434310 in RAB3GAP2 gene and Martsolf syndrome PMID 16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.