Variant: rs312262830 

    present in Gene: OFD1
    present in Chromosome: X
    Position on Chromosome: 13739017
    Alleles of this Variant: GAAA/-

rs312262830 in OFD1 gene and Abnormality of brain morphology PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

rs312262830 in OFD1 gene and JOUBERT SYNDROME 10 (disorder) PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

rs312262830 in OFD1 gene and Orofaciodigital Syndrome I PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

rs312262830 in OFD1 gene and SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.