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: rs1057516633
rs1057516633
VPS13B
1 1.000 0.320 8 99642105 stop gained C/T snv 8.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs120074154
rs120074154
VPS13B
1 1.000 0.320 8 99854202 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs1554625617
rs1554625617
VPS13B
1 1.000 0.320 8 99121245 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1554665974
rs1554665974
VPS13B
1 1.000 0.320 8 99192874 splice acceptor variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs180177358
rs180177358
VPS13B
1 1.000 0.320 8 99384318 splice donor variant GT/- del 0.700 1.000 1 2006 2006
dbSNP: rs180177365
rs180177365
VPS13B
1 1.000 0.320 8 99642435 stop gained C/T snv 1.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs180177371
rs180177371
VPS13B
1 1.000 0.320 8 99853768 frameshift variant AG/- delins 0.700 1.000 1 2006 2006
dbSNP: rs180177374
rs180177374
COX6C ; VPS13B
1 1.000 0.320 8 99875499 frameshift variant -/C delins 0.700 1.000 1 2004 2004
dbSNP: rs386834057
rs386834057
VPS13B
1 1.000 0.320 8 99859307 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs386834059
rs386834059
VPS13B
2 0.925 0.400 8 99861824 frameshift variant -/GGAC delins 7.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs386834084
rs386834084
VPS13B
1 1.000 0.320 8 99511138 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs386834098
rs386834098
VPS13B
1 1.000 0.320 8 99642323 frameshift variant AT/- delins 0.700 1.000 1 2005 2005
dbSNP: rs386834099
rs386834099
VPS13B
1 1.000 0.320 8 99642342 stop gained C/T snv 7.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs386834106
rs386834106
VPS13B
1 1.000 0.320 8 99776957 splice donor variant G/A snv 8.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs386834120
rs386834120
VPS13B
1 1.000 0.320 8 99835195 splice acceptor variant A/C;G snv 0.700 1.000 1 2004 2004
dbSNP: rs748404277
rs748404277
VPS13B
1 1.000 0.320 8 99699773 frameshift variant AT/- del 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs753770252
rs753770252
VPS13B
1 1.000 0.320 8 99832510 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs765998879
rs765998879
VPS13B
1 1.000 0.320 8 99507850 stop gained T/A snv 1.2E-05 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs777593389
rs777593389
VPS13B
3 1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786204533
rs786204533
VPS13B
1 1.000 0.320 8 99641848 frameshift variant -/T delins 0.700 1.000 1 2012 2012
dbSNP: rs886041185
rs886041185
VPS13B
4 0.925 0.320 8 99835295 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs886041323
rs886041323
VPS13B
1 1.000 0.320 8 99661366 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1034855385
rs1034855385
VPS13B
1 1.000 0.320 8 99442636 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1057516245
rs1057516245
VPS13B
1 1.000 0.320 8 99868333 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516274
rs1057516274
VPS13B
1 1.000 0.320 8 99121318 frameshift variant AC/G delins 0.700 0