Variant: rs104894796 

    present in Gene: EFNB1
    present in Chromosome: X
    Position on Chromosome: 68838820
    Alleles of this Variant: C/T

rs104894796 in EFNB1 gene and Craniofrontonasal dysplasia PMID 15166289 2004 Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

PMID 15959873 2005 Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

PMID 15124102 2004 Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.