Variant: rs1555565243 

    present in Gene: RAI1
    present in Chromosome: 17
    Position on Chromosome: 17794617
    Alleles of this Variant: CT/-

rs1555565243 in RAI1 gene and Dysmorphic features PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

rs1555565243 in RAI1 gene and Multiple congenital anomalies PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

rs1555565243 in RAI1 gene and Overgrowth PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.