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: rs797045277
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs797045277
rs797045277
ARID1B
0.882 0.280 6 157198907 splice region variant G/A snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0