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: rs1057517318
rs1057517318
VPS13B
1 1.000 0.320 8 99717221 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517319
rs1057517319
VPS13B
1 1.000 0.320 8 99135662 frameshift variant TTTG/- delins 0.700 0
dbSNP: rs1057517328
rs1057517328
COX6C ; VPS13B
1 1.000 0.320 8 99875551 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517338
rs1057517338
VPS13B
1 1.000 0.320 8 99148004 frameshift variant AAAAG/- delins 0.700 0
dbSNP: rs1057517376
rs1057517376
VPS13B
1 1.000 0.320 8 99861893 frameshift variant GC/- del 0.700 0
dbSNP: rs1057517385
rs1057517385
VPS13B
1 1.000 0.320 8 99871552 stop gained C/A snv 0.700 0
dbSNP: rs1057517393
rs1057517393
VPS13B
1 1.000 0.320 8 99776958 splice donor variant T/C snv 0.700 0
dbSNP: rs1057517438
rs1057517438
VPS13B
1 1.000 0.320 8 99871532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057517441
rs1057517441
VPS13B
1 1.000 0.320 8 99868288 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517447
rs1057517447
VPS13B
1 1.000 0.320 8 99431585 frameshift variant A/- delins 0.700 0
dbSNP: rs1057520769
rs1057520769
VPS13B
1 1.000 0.320 8 99854124 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs1188811827
rs1188811827
VPS13B
1 1.000 0.320 8 99391706 splice donor variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1200459145
rs1200459145
VPS13B
1 1.000 0.320 8 99848895 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs120074149
rs120074149
VPS13B
1 1.000 0.320 8 99717219 missense variant T/G snv 0.800 1.000 6 2003 2009
dbSNP: rs120074150
rs120074150
VPS13B
1 1.000 0.320 8 99720973 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 3 2003 2015
dbSNP: rs120074151
rs120074151
VPS13B
1 1.000 0.320 8 99511275 stop gained G/T snv 8.0E-06 3.5E-05 0.700 1.000 2 2004 2007
dbSNP: rs120074152
rs120074152
VPS13B
3 0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs120074153
rs120074153
VPS13B
1 1.000 0.320 8 99784394 missense variant G/A snv 0.800 1.000 6 2003 2009
dbSNP: rs120074154
rs120074154
VPS13B
1 1.000 0.320 8 99854202 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs120074155
rs120074155
VPS13B
1 1.000 0.320 8 99818473 missense variant T/C snv 0.800 1.000 6 2003 2009
dbSNP: rs1235993153
rs1235993153
VPS13B
1 1.000 0.320 8 99699933 splice donor variant G/C snv 4.0E-06 0.700 0
dbSNP: rs1301330402
rs1301330402
VPS13B
1 1.000 0.320 8 99835736 stop gained -/TTT ins 4.0E-06 0.700 0
dbSNP: rs1347701279
rs1347701279
VPS13B
1 1.000 0.320 8 99868309 frameshift variant G/- del 0.700 0
dbSNP: rs1357171752
rs1357171752
VPS13B
1 1.000 0.320 8 99661452 frameshift variant T/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1378196300
rs1378196300
VPS13B
1 1.000 0.320 8 99784313 splice acceptor variant A/C snv 7.0E-06 0.700 0