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: rs556450190
rs556450190
AP4E1
3 1.000 0.080 15 50997380 missense variant G/A snv 2.5E-05 1.7E-04 0.700 1.000 1 2015 2015