Variant: rs74315429 

    present in Gene: SALL4
    present in Chromosome: 20
    Position on Chromosome: 51788940
    Alleles of this Variant: T/C

rs74315429 in SALL4 gene and Okihiro Syndrome PMID 12393809 2002 Okihiro syndrome is caused by SALL4 mutations.

PMID 12395297 2002 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

PMID 16402211 2006 A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.