Variant: rs879253819 

    present in Gene: EMC1;EMC1-AS1
    present in Chromosome: 1
    Position on Chromosome: 19235151
    Alleles of this Variant: C/G

rs879253819 in EMC1;EMC1-AS1 gene and CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.