Gene: ARID1B ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609

2014
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232

2014
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232

2014
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609

2014
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232

2014
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609

2014
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012