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: rs121908904
rs121908904
AP3B1
2 0.925 0.200 5 78129219 missense variant A/C snv 0.800 1.000 1 1999 1999
dbSNP: rs121908905
rs121908905
AP3B1
1 1.000 0.200 5 78181545 stop gained T/A;C snv 8.0E-06 0.700 0
dbSNP: rs121908906
rs121908906
AP3B1
2 0.925 0.200 5 78141268 stop gained G/A snv 0.700 0
dbSNP: rs121908907
rs121908907
AP3B1
2 0.925 0.200 5 78116228 stop gained C/A snv 0.700 0
dbSNP: rs1554072100
rs1554072100
AP3B1
2 0.925 0.200 5 78165610 splice acceptor variant GAAATTCTCGAAGAAGAGTTGATATGTTGGCTTCATTTGCCAAGTTTGTCAAAATTTCAAGCT/- delins 0.700 0
dbSNP: rs869312835
rs869312835
AP3B1
1 1.000 0.200 5 78039150 missense variant G/C snv 0.700 0
dbSNP: rs869312836
rs869312836
AP3B1
1 1.000 0.200 5 78129204 frameshift variant A/- del 0.700 0
dbSNP: rs869312837
rs869312837
AP3B1
1 1.000 0.200 5 78216125 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs869312838
rs869312838
AP3B1
1 1.000 0.200 5 78267547 frameshift variant T/- delins 4.0E-06 0.700 0
dbSNP: rs869312839
rs869312839
AP3B1
1 1.000 0.200 5 78128156 splice acceptor variant CTAT/- delins 4.0E-06 0.700 0