rs387907144, ARID1B

N. diseases: 34
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal platelet function
CUI: C0855740
Disease: Abnormal platelet function
2 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Bilateral Cryptorchidism
CUI: C0431663
Disease: Bilateral Cryptorchidism
9 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Broad nasal tip
CUI: C0426429
Disease: Broad nasal tip
8 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Delayed eruption of primary teeth
CUI: C1849538
Disease: Delayed eruption of primary teeth
2 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Delayed speech and language development
192 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Dilated fourth ventricle
CUI: C1847117
Disease: Dilated fourth ventricle
1 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Hyperkeratosis pilaris
CUI: C4073145
Disease: Hyperkeratosis pilaris
3 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Lumbosacral hirsutism
CUI: C1851095
Disease: Lumbosacral hirsutism
1 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015