Variant: rs104894866 

    present in Gene: MID1
    present in Chromosome: X
    Position on Chromosome: 10482609
    Alleles of this Variant: A/G

rs104894866 in MID1 gene and Opitz GBBB Syndrome, X-Linked PMID 9718340 1998 Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

PMID 9354791 1997 Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

PMID 15558842 2005 Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

PMID 11030761 2000 New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.