Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11967485
rs11967485
ARID1B
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		A 0.800 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962

2013
dbSNP: rs11967485
rs11967485
ARID1B
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		A 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962

2013
dbSNP: rs1028186690
rs1028186690
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518648
rs1057518648
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518691
rs1057518691
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518951
rs1057518951
ARID1B
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518951
rs1057518951
ARID1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518951
rs1057518951
ARID1B
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518951
rs1057518951
ARID1B
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518951
rs1057518951
ARID1B
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518984
rs1057518984
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519002
rs1057519002
ARID1B
CUI: C0683322
Disease: Mental impairment
Mental impairment 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519009
rs1057519009
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		GAA 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499668
rs1060499668
ARID1B
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs112140754
rs112140754
ARID1B
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858

2018
dbSNP: rs1131692263
rs1131692263
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs11967485
rs11967485
ARID1B
CUI: C0428302
Disease: Calcium level result
Calcium level result 		A 0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 24068962

2013
dbSNP: rs12204046
rs12204046
ARID1B
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219

2012
dbSNP: rs1404726383
rs1404726383
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		G 0.700 CausalMutation CLINVAR