ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11967485
rs11967485
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0201925
Disease:
Calcium measurement 		A 0.800 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962 2013
dbSNP: rs11967485
rs11967485
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0201925
Disease:
Calcium measurement 		A 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962 2013
dbSNP: rs17322427
rs17322427
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs112140754
rs112140754
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0428883
Disease:
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs287879
rs287879
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs1554226131
rs1554226131
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554226131
rs1554226131
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026827
Disease:
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554226131
rs1554226131
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554226131
rs1554226131
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554231814
rs1554231814
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554231814
rs1554231814
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554234424
rs1554234424
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554234424
rs1554234424
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554234424
rs1554234424
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554234424
rs1554234424
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554235792
rs1554235792
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554235792
rs1554235792
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554236054
rs1554236054
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		AG 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554236054
rs1554236054
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026650
Disease:
Movement Disorders 		AG 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554236054
rs1554236054
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026650
Disease:
Movement Disorders 		AG 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554236054
rs1554236054
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease:
Dysmorphic features 		AG 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554236054
rs1554236054
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1554236054
rs1554236054
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease:
Multiple congenital anomalies 		AG 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554237050
rs1554237050
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
dbSNP: rs1554237050
rs1554237050
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017