ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1650007
rs1650007
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C0021704
Disease:
Intelligence
T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs1863127
rs1863127
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7316454
rs7316454
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs1555155263
rs1555155263
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 28884947 2017
dbSNP: rs1555155263
rs1555155263
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 28124119 2017
dbSNP: rs1555155263
rs1555155263
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Mutations in ARID2 are associated with intellectual disabilities. 26238514 2015
dbSNP: rs772995852
rs772995852
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C4540499
Disease:
COFFIN-SIRIS SYNDROME 6
T 0.700 GeneticVariation CLINVAR Mutations in ARID2 are associated with intellectual disabilities. 26238514 2015
dbSNP: rs1555155263
rs1555155263
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes. 15985610 2005
dbSNP: rs1555139310
rs1555139310
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C4540499
Disease:
COFFIN-SIRIS SYNDROME 6
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C4540499
Disease:
COFFIN-SIRIS SYNDROME 6
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0221357
Disease:
Brachydactyly
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C1859775
Disease:
Anterior pituitary hypoplasia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0557874
Disease:
Global developmental delay
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C1839546
Disease:
Microretrognathia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C1842774
Disease:
Hypermelanotic macule
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0454644
Disease:
Delayed speech and language development
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C2675021
Disease:
Narrow palpebral fissure
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0234518
Disease:
Slurred speech
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C4023458
Disease:
Abnormal shape of the frontal region
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C1840077
Disease:
Anteverted nostril
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0349588
Disease:
Short stature
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0005744
Disease:
Blepharophimosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C4023771
Disease:
Anterior pituitary dysgenesis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C0423110
Disease:
Downward slant of palpebral fissure
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555154946
rs1555154946
Entrez Id: 196528;105369745
Gene Symbol: ARID2;LOC105369745
ARID2;LOC105369745
CUI: C1857042
Disease:
Sparse scalp hair
T 0.700 CausalMutation CLINVAR