ARID1A, AT-rich interaction domain 1A, 8289

N. diseases: 341; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11247593
rs11247593
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE Of the secondary tests performed, ARID1A rs11247593 was associated with NTDs in whites, and ALDH1A2 rs7169289 was associated with isolated NTDs in African Americans. 25293959 2014
dbSNP: rs1253810269
rs1253810269
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0018802
Disease:
Congestive heart failure 		0.010 GeneticVariation BEFREE This pharmacogenetic substudy of the prospective, double-blind, randomized CIBIS-ELD trial determined the impact of the β1-adrenoceptor Arg189Gly polymorphism on heart-rate responses to bisoprolol or carvedilol in elderly patients with heart failure (421 with sinus rhythm, 107 with atrial fibrillation). 22617224 2012
dbSNP: rs1253810269
rs1253810269
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE This pharmacogenetic substudy of the prospective, double-blind, randomized CIBIS-ELD trial determined the impact of the β1-adrenoceptor Arg189Gly polymorphism on heart-rate responses to bisoprolol or carvedilol in elderly patients with heart failure (421 with sinus rhythm, 107 with atrial fibrillation). 22617224 2012
dbSNP: rs1253810269
rs1253810269
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0018801
Disease:
Heart failure 		0.010 GeneticVariation BEFREE This pharmacogenetic substudy of the prospective, double-blind, randomized CIBIS-ELD trial determined the impact of the β1-adrenoceptor Arg189Gly polymorphism on heart-rate responses to bisoprolol or carvedilol in elderly patients with heart failure (421 with sinus rhythm, 107 with atrial fibrillation). 22617224 2012
dbSNP: rs1342376116
rs1342376116
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0038356
Disease:
Stomach Neoplasms 		0.010 GeneticVariation BEFREE One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor and a post-imatinib recurrence. 25427437 2015
dbSNP: rs4589135
rs4589135
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE Our study revealed significant associations of two variants rs6598860 (OR = 1.27, P = 1.58 × 10<sup>-4</sup>) and rs4589135 (OR = 1.22, P = 3.72 × 10<sup>-4</sup>) in ARID1A with overweight/obesity. 29500370 2018
dbSNP: rs6598860
rs6598860
Entrez Id: 8289;101928728
Gene Symbol: ARID1A;LOC101928728
ARID1A;LOC101928728
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE Our study revealed significant associations of two variants rs6598860 (OR = 1.27, P = 1.58 × 10<sup>-4</sup>) and rs4589135 (OR = 1.22, P = 3.72 × 10<sup>-4</sup>) in ARID1A with overweight/obesity. 29500370 2018
dbSNP: rs1485978447
rs1485978447
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553146165
rs1553146165
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553149467
rs1553149467
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0009402
Disease:
Colorectal Carcinoma 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1553153291
rs1553153291
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0344760
Disease:
Congenital atresia of mitral valve 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0265881
Disease:
Congenital hypoplasia of aortic arch 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0239234
Disease:
Low set ears 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0013274
Disease:
Patent ductus arteriosus 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1384670
Disease:
Single umbilical artery 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0265837
Disease:
Congenital hypoplasia of tricuspid valve 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0009081
Disease:
Congenital clubfoot 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0013069
Disease:
Double Outlet Right Ventricle 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0152101
Disease:
Hypoplastic Left Heart Syndrome 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1866134
Disease:
Wide anterior fontanel 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0426848
Disease:
Sacral dimple 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0079924
Disease:
Oligohydramnios 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1836599
Disease:
Macrocephaly at birth 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR