ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1028186690
rs1028186690
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518648
rs1057518648
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518691
rs1057518691
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518918
rs1057518918
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0037822
Disease:
Speech Disorders
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518918
rs1057518918
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1843367
Disease:
Poor school performance
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518918
rs1057518918
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518918
rs1057518918
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0431663
Disease:
Bilateral Cryptorchidism
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518918
rs1057518918
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0020555
Disease:
Hypertrichosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518918
rs1057518918
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0557874
Disease:
Global developmental delay
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518951
rs1057518951
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0020555
Disease:
Hypertrichosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518951
rs1057518951
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0557874
Disease:
Global developmental delay
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518951
rs1057518951
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0175754
Disease:
Agenesis of corpus callosum
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518951
rs1057518951
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C2267233
Disease:
Neonatal Hypotonia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518951
rs1057518951
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1834405
Disease:
Nail dysplasia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518984
rs1057518984
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease:
Coffin-Siris syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519002
rs1057519002
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0683322
Disease:
Mental impairment
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519009
rs1057519009
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease:
Coffin-Siris syndrome
GAA 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499668
rs1060499668
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1303073
Disease:
Nicolaides Baraitser syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692263
rs1131692263
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1404726383
rs1404726383
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
G 0.700 CausalMutation CLINVAR
dbSNP: rs1451259945
rs1451259945
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1451259945
rs1451259945
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554231836
rs1554231836
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554231845
rs1554231845
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
G 0.700 CausalMutation CLINVAR
dbSNP: rs1554232959
rs1554232959
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
GA 0.700 CausalMutation CLINVAR