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: 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: rs1554237050
rs1554237050 		6 157206240 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: 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: 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: rs12204046
rs12204046 		6 156891736 intron variant T/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: 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: rs375927292
rs375927292 		6 156891737 intron variant C/-;CC;CCC;CCCC delins
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs797044859
rs797044859 		6 157200765 frameshift variant AT/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
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: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
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 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism 		0.700 1.000 2 2012 2015