Variant: rs1376334317 

    present in Gene: STAG1
    present in Chromosome: 3
    Position on Chromosome: 136473546
    Alleles of this Variant: C/T

rs1376334317 in STAG1 gene and Dysmorphic features PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

rs1376334317 in STAG1 gene and Multiple congenital anomalies PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.