Variant: rs1010907740

present in Gene: GPAA1 present in Chromosome: 8 Position on Chromosome: 144084471 Alleles of this Variant: T/C

rs1010907740 in GPAA1 gene and GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 PMID 29100095 2017 Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.