Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
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: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
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