Source: CLINVAR

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: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0277960
Disease: Dry hair
Dry hair 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
Congenital talipes calcaneovalgus 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0040485
Disease: Torticollis
Torticollis 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0