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: rs1553444935
rs1553444935
RAB3GAP1
1 1.000 0.320 2 135115293 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1064794536
rs1064794536
RAB3GAP1
1 1.000 0.320 2 135115363 frameshift variant -/C ins 4.0E-06 0.700 0
dbSNP: rs137853052
rs137853052
RAB3GAP1 ; ZRANB3
1 1.000 0.320 2 135150456 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs137853053
rs137853053
RAB3GAP1 ; SNORA40B
1 1.000 0.320 2 135135743 stop gained G/A snv 0.700 0
dbSNP: rs1553444644
rs1553444644
RAB3GAP1
1 1.000 0.320 2 135113216 frameshift variant -/T delins 0.700 0
dbSNP: rs1553450718
rs1553450718
RAB3GAP1 ; ZRANB3
1 1.000 0.320 2 135168700 frameshift variant -/TTCT ins 0.700 0
dbSNP: rs1558782178
rs1558782178
RAB3GAP1
1 1.000 0.320 2 135113257 stop gained G/T snv 0.700 0
dbSNP: rs1558792168
rs1558792168
RAB3GAP1
1 1.000 0.320 2 135132893 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1558792256
rs1558792256
RAB3GAP1
1 1.000 0.320 2 135132968 stop gained C/G snv 0.700 0
dbSNP: rs1558805900
rs1558805900
RAB3GAP1 ; ZRANB3
1 1.000 0.320 2 135162986 stop gained G/T snv 0.700 0
dbSNP: rs267606996
rs267606996
RAB3GAP1
1 1.000 0.320 2 135133944 stop gained C/A snv 0.700 0
dbSNP: rs532964185
rs532964185
RAB3GAP1
1 1.000 0.320 2 135130060 stop gained C/T snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs587776651
rs587776651
RAB3GAP1
1 1.000 0.320 2 135120919 splice donor variant G/A snv 0.700 0
dbSNP: rs587777152
rs587777152
RAB3GAP1
1 1.000 0.320 2 135126250 splice donor variant G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs587777153
rs587777153
RAB3GAP1 ; ZRANB3
1 1.000 0.320 2 135150477 frameshift variant -/GCTCTCAGATATGGAGTCT delins 0.700 0
dbSNP: rs587777154
rs587777154
RAB3GAP1
1 1.000 0.320 2 135052463 missense variant A/C snv 0.700 0
dbSNP: rs587777155
rs587777155
RAB3GAP1
1 1.000 0.320 2 135052482 missense variant A/T snv 0.700 0
dbSNP: rs730882182
rs730882182
RAB3GAP1 ; ZRANB3
1 1.000 0.320 2 135168632 frameshift variant C/- delins 0.700 0
dbSNP: rs730882183
rs730882183
RAB3GAP1
1 1.000 0.320 2 135120817 splice acceptor variant A/G snv 0.700 0
dbSNP: rs730882184
rs730882184
RAB3GAP1
1 1.000 0.320 2 135091111 frameshift variant AAAGGAT/TTATTA delins 0.700 0
dbSNP: rs766629205
rs766629205
RAB3GAP1
1 1.000 0.320 2 135130030 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
5 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0