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: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
5 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 4 2011 2015
dbSNP: rs1019204290
rs1019204290
AP4B1 ; DCLRE1B
1 1.000 1 113902633 splice region variant C/T snv 0.700 0
dbSNP: rs1553257236
rs1553257236
AP4B1 ; AP4B1-AS1
1 1.000 1 113896265 frameshift variant AATACAACAAACGT/- delins 0.700 0
dbSNP: rs374894037
rs374894037
AP4B1 ; AP4B1-AS1
1 1.000 1 113898739 stop gained G/A snv 4.0E-06 4.2E-05 0.700 0
dbSNP: rs587783179
rs587783179
AP4B1 ; DCLRE1B
1 1.000 1 113902663 frameshift variant C/- delins 1.4E-05 0.700 0
dbSNP: rs776976178
rs776976178
AP4B1 ; AP4B1-AS1
1 1.000 1 113897926 stop gained G/A;T snv 5.6E-05; 8.0E-06 0.700 0
dbSNP: rs797045244
rs797045244
AP4B1 ; DCLRE1B
1 1.000 1 113902664 frameshift variant CA/G delins 0.700 0