Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
4 0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15 0.710 1.000 4 2013 2018