ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17322427
rs17322427 		6 156967408 intron variant A/G snv 0.27
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs287879
rs287879 		6 156822205 intron variant A/G snv 0.25
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs11967485
rs11967485 		6 156807123 intron variant G/A snv 0.15
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 1 2013 2013
dbSNP: rs11967485
rs11967485 		6 156807123 intron variant G/A snv 0.15
CUI: C0428302
Disease: Calcium level result
Calcium level result 		0.700 1.000 1 2013 2013
dbSNP: rs9397984
rs9397984 		1.000 0.080 6 156898551 intron variant T/C snv 0.14
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs73013281
rs73013281 		1.000 0.080 6 156777090 5 prime UTR variant T/C snv 7.3E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs112140754
rs112140754 		6 156924099 intron variant T/C snv 3.6E-03
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1451259945
rs1451259945 		1.000 0.280 6 157206623 stop gained G/A;T snv 4.0E-06 4.2E-05
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs377021700
rs377021700 		1.000 0.280 6 157200734 stop gained C/G;T snv 3.2E-05 3.5E-05
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.040 1.000 4 2006 2019
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2001 2012
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1999 2002
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1999 1999
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2001 2001
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs1318358361
rs1318358361 		0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1404726383
rs1404726383 		1.000 0.280 6 157181180 splice donor variant T/C;G snv 1.4E-05
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs773740590
rs773740590 		1.000 0.280 6 157196311 stop gained C/A;T snv 9.0E-06 7.0E-06
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs201653711
rs201653711 		0.925 0.280 6 156871638 stop gained G/T snv 1.2E-05 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017