Variant: rs121908250 

    present in Gene: CCBE1
    present in Chromosome: 18
    Position on Chromosome: 59480228
    Alleles of this Variant: A/T

rs121908250 in CCBE1 gene and HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 PMID 19935664 2009 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

PMID 19911200 2010 Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.