Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147355776
rs147355776
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs78053957
rs78053957
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs112780312
rs112780312
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs112780312
rs112780312
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
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: rs4391701
rs4391701
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs4595397
rs4595397
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs4612664
rs4612664
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1064793829
rs1064793829
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C2243051
Disease:
Large head (disorder) 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
dbSNP: rs1064793829
rs1064793829
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0264611
Disease:
Apraxia of Phonation 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
dbSNP: rs1064793829
rs1064793829
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0014877
Disease:
Esotropia 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
dbSNP: rs1064793829
rs1064793829
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
dbSNP: rs1064793829
rs1064793829
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1843367
Disease:
Poor school performance 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. 26944241 2016
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. 26944241 2016
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. 23644463 2013
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. 23644463 2013
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs1057518674
rs1057518674
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057521041
rs1057521041
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692164
rs1131692164
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		GACATC 0.700 CausalMutation CLINVAR
dbSNP: rs1131692165
rs1131692165
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553187362
rs1553187362
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 GeneticVariation CLINVAR