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: 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
dbSNP: rs1557570794
rs1557570794
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0003492
Disease:
Aortic coarctation 		AGCCGCCTCCCTCCTCCAGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1557591264
rs1557591264
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0344482
Disease:
Hypoplasia of corpus callosum 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0036572
Disease:
Seizures 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3279571
Disease:
Ectopic posterior pituitary 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0018818
Disease:
Ventricular Septal Defects 		C 0.700 GeneticVariation CLINVAR