Gene: STAG1
Alternate names for this Gene: MRD47|SA1|SCC3A
Gene Summary: This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase.
Gene is located in Chromosome: 3
Location in Chromosome : 3q22.3
Description of this Gene: stromal antigen 1
Type of Gene: protein-coding
rs9880211 in
STAG1 gene and
Body Height
PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.
rs1471740 in
STAG1 gene and
Body mass index
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
rs7621025 in
STAG1 gene and
C-reactive protein measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs7432375 in
STAG1 gene and
Child Development Disorders, Pervasive
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs13065626 in
STAG1 gene and
Coronary Artery Disease
PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
rs61790808 in
STAG1 gene and
Dental caries
PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.
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.
rs151105710 in
STAG1 gene and
High density lipoprotein measurement
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs7432375 in
STAG1 gene and
Intelligence
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
rs1553722309 in
STAG1 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
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.
rs9826828 in
STAG1 gene and
Rheumatoid Arthritis
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
rs66691851 in
STAG1 gene and
Schizophrenia
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.
PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
rs13092193 in
STAG1 gene and
Tonometry
PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.