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: 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
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1832446
Disease:
Sparse eyebrow 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0079541
Disease:
Holoprosencephaly 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1858120
Disease:
Generalized hypotonia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C4551488
Disease:
Bifid uvula 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557612048
rs1557612048
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0271801
Disease:
Central hypothyroidism 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1557620758
rs1557620758
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		A 0.700 CausalMutation CLINVAR
dbSNP: rs375761808
rs375761808
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375761808
rs375761808
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0266470
Disease:
Cerebellar Hypoplasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375761808
rs375761808
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1837397
Disease:
Severe global developmental delay 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375761808
rs375761808
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0023529
Disease:
Leukomalacia, Periventricular 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375761808
rs375761808
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C4551563
Disease:
Microcephaly (physical finding) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375761808
rs375761808
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1854882
Disease:
Absent speech 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906845
rs387906845
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C3553247
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906846
rs387906846
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0239998
Disease:
Recurrent infections 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906846
rs387906846
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1839739
Disease:
Thick lower lip vermilion 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906846
rs387906846
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0424295
Disease:
Hyperactive behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906846
rs387906846
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1865014
Disease:
Long philtrum 		T 0.700 CausalMutation CLINVAR