Variant: rs1569086116 

    present in Gene: SYNJ1
    present in Chromosome: 21
    Position on Chromosome: 32681650
    Alleles of this Variant: T/C

rs1569086116 in SYNJ1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 PMID 25316601 2015 Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

PMID 27435091 2016 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

rs1569086116 in SYNJ1 gene and PARKINSON DISEASE 20, EARLY-ONSET PMID 25316601 2015 Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

PMID 27435091 2016 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.