Gene: AP3B2 ×
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: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
2 0.925 0.040 15 82679729 splice region variant C/T snv 0.700 0
dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
2 0.925 0.040 15 82680174 splice donor variant C/G snv 0.700 0