Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: rs1553187362
rs1553187362
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553187443
rs1553187443
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553187446
rs1553187446
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553188463
rs1553188463
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557778985
rs1557778985
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C3554448
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0042870
Disease:
Vitamin D Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C4072908
Disease:
Induced vaginal delivery 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0020224
Disease:
Polyhydramnios 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1837260
Disease:
Prominent forehead 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0239234
Disease:
Low set ears 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0015732
Disease:
Fecal Incontinence 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C2243051
Disease:
Large head (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557781252
rs1557781252
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0020534
Disease:
Orbital separation excessive 		A 0.700 CausalMutation CLINVAR