Variant: rs104894684 

    present in Gene: FKRP
    present in Chromosome: 19
    Position on Chromosome: 46756403
    Alleles of this Variant: G/A

rs104894684 in FKRP gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 PMID 15121789 2004 Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.