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: rs869312712
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.700 0