Variant: rs137853063

present in Gene: VRK1 present in Chromosome: 14 Position on Chromosome: 96876033 Alleles of this Variant: C/G;T

rs137853063 in VRK1 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs137853063 in VRK1 gene and Pontocerebellar Hypoplasia Type 1 PMID 24126608 2013 Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.