Variant: rs1565898123 

    present in Gene: RXYLT1
    present in Chromosome: 12
    Position on Chromosome: 63781018
    Alleles of this Variant: G/-

rs1565898123 in RXYLT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 PMID 23519211 2013 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.