Variant: rs1553252938 

    present in Gene: EMC1;EMC1-AS1
    present in Chromosome: 1
    Position on Chromosome: 19232655
    Alleles of this Variant: G/T

rs1553252938 in EMC1;EMC1-AS1 gene and Movement Disorders PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

rs1553252938 in EMC1;EMC1-AS1 gene and Muscle hypotonia PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.