Variant: rs775085213

present in Gene: SLC6A17 present in Chromosome: 1 Position on Chromosome: 110174012 Alleles of this Variant: G/A

rs775085213 in SLC6A17 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 PMID 25704603 2015 Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.