BICD2, BICD cargo adaptor 2, 23299

N. diseases: 97; N. variants: 9
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045412
rs797045412
0.776 0.280 9 92718565 missense variant G/A;T snv
CUI: C0266483
Disease: Pachygyria
Pachygyria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0