Variant: rs1568224018 

    present in Gene: PIGN
    present in Chromosome: 18
    Position on Chromosome: 62143305
    Alleles of this Variant: C/A

rs1568224018 in PIGN gene and MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.