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: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		0.700 1.000 2 2012 2015
dbSNP: rs387907141
rs387907141 		0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.700 0
dbSNP: rs879253745
rs879253745 		0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs879253747
rs879253747 		0.925 0.240 6 157167101 stop gained C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs879253856
rs879253856 		0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518951
rs1057518951 		0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045277
rs797045277 		0.882 0.280 6 157198907 splice region variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs9383820
rs9383820 		6 157098374 intron variant C/G;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
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: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs1057518918
rs1057518918 		0.882 0.160 6 157184329 frameshift variant C/- delins
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs879253745
rs879253745 		0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs879253747
rs879253747 		0.925 0.240 6 157167101 stop gained C/T snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs879253856
rs879253856 		0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs387907141
rs387907141 		0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 1.000 2 2012 2015
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: 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: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 1.000 2 2012 2015
dbSNP: rs387907141
rs387907141 		0.752 0.360 6 157181137 stop gained C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0