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: 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: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		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: 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: C0349588
Disease: Short stature
Short stature 		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: 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: 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: 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: C0151526
Disease: Premature Birth
Premature Birth 		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