ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1941697
rs1941697
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs6507054
rs6507054
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7226575
rs7226575
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs10164193
rs10164193
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs11081818
rs11081818
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs7228141
rs7228141
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0596887
Disease:
mathematical ability 		G 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: rs8084619
rs8084619
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0596887
Disease:
mathematical ability 		A 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: rs1555742087
rs1555742087
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
dbSNP: rs1555742087
rs1555742087
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
dbSNP: rs1555742087
rs1555742087
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473 2017
dbSNP: rs1555742087
rs1555742087
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
dbSNP: rs1555742087
rs1555742087
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
dbSNP: rs1555742087
rs1555742087
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473 2017
dbSNP: rs1555742500
rs1555742500
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
dbSNP: rs1555742500
rs1555742500
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
dbSNP: rs1555742500
rs1555742500
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
dbSNP: rs1555742500
rs1555742500
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
dbSNP: rs1555742500
rs1555742500
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473 2017
dbSNP: rs1555742500
rs1555742500
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473 2017
dbSNP: rs1555743005
rs1555743005
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
dbSNP: rs1555743005
rs1555743005
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
dbSNP: rs1555743005
rs1555743005
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473 2017
dbSNP: rs1555743005
rs1555743005
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728 2017
dbSNP: rs1555743005
rs1555743005
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041 2017
dbSNP: rs1555743005
rs1555743005
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473 2017