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: 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: rs1344215061
rs1344215061 		6 157196226 missense variant C/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
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: 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: 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: 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: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.040 1.000 4 2006 2019
dbSNP: rs1554226131
rs1554226131 		1.000 6 157148899 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554226131
rs1554226131 		1.000 6 157148899 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554231814
rs1554231814 		6 157184262 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424 		1.000 6 157196295 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424 		1.000 6 157196295 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554235792
rs1554235792 		1.000 6 157201064 stop gained C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017