Gene: RAB3GAP2 ×
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: rs1553278569
rs1553278569
RAB3GAP2
1 1.000 1 220210804 inframe deletion AGTGTAGAA/- del 0.700 1.000 1 2011 2011
dbSNP: rs587777167
rs587777167
RAB3GAP2
2 0.925 0.240 1 220191279 missense variant G/A snv 1.6E-05 7.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs797045103
rs797045103
RAB3GAP2 ; SNORA36B ; MIR664A
1 1.000 1 220202376 splice acceptor variant T/C snv 7.0E-05 0.700 1.000 1 2013 2013
dbSNP: rs1553275687
rs1553275687
RAB3GAP2
1 1.000 1 220182722 frameshift variant -/G delins 0.700 0
dbSNP: rs587777168
rs587777168
RAB3GAP2
1 1.000 1 220191121 stop gained C/T snv 0.700 0
dbSNP: rs587777169
rs587777169
RAB3GAP2
1 1.000 1 220153976 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs587777170
rs587777170
RAB3GAP2
1 1.000 1 220167295 stop gained C/A snv 0.700 0