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: rs941969577
rs941969577
VPS13B
1 1.000 0.320 8 99835267 stop gained C/T snv 0.700 0
dbSNP: rs933746831
rs933746831
COX6C ; VPS13B
1 1.000 0.320 8 99875430 stop gained C/T snv 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs930144563
rs930144563
VPS13B
1 1.000 0.320 8 99766773 splice acceptor variant G/A snv 1.4E-05 0.700 0
dbSNP: rs886041586
rs886041586
VPS13B
1 1.000 0.320 8 99642268 frameshift variant TT/- del 7.0E-06 0.700 0
dbSNP: rs886041323
rs886041323
VPS13B
1 1.000 0.320 8 99661366 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs886041185
rs886041185
VPS13B
4 0.925 0.320 8 99835295 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs886041184
rs886041184
VPS13B
1 1.000 0.320 8 99766939 frameshift variant A/- delins 0.700 0
dbSNP: rs875989882
rs875989882
VPS13B
1 1.000 0.320 8 99853554 frameshift variant CTCACACTGGACAACATTTTTCTCTGTGTGGCCCCGGGAGCTG/- del 0.700 0
dbSNP: rs867112705
rs867112705
VPS13B
1 1.000 0.320 8 99868287 splice acceptor variant A/G snv 0.700 0
dbSNP: rs797046098
rs797046098
VPS13B
1 1.000 0.320 8 99820043 stop gained G/A snv 0.700 0
dbSNP: rs786204533
rs786204533
VPS13B
1 1.000 0.320 8 99641848 frameshift variant -/T delins 0.700 1.000 1 2012 2012
dbSNP: rs786204456
rs786204456
COX6C ; VPS13B
1 1.000 0.320 8 99875503 frameshift variant CCAGCTGTTCT/G delins 0.700 1.000 3 2004 2016
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: rs774357106
rs774357106
VPS13B
1 1.000 0.320 8 99835565 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs773945333
rs773945333
VPS13B
1 1.000 0.320 8 99823946 frameshift variant ATCT/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs773094891
rs773094891
COX6C ; VPS13B
1 1.000 0.320 8 99875510 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs768801125
rs768801125
VPS13B
1 1.000 0.320 8 99835550 frameshift variant T/- delins 0.700 0
dbSNP: rs768342041
rs768342041
VPS13B
1 1.000 0.320 8 99556449 splice acceptor variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs767858119
rs767858119
VPS13B
1 1.000 0.320 8 99721045 stop gained C/T snv 4.0E-06 0.700 0
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: rs765302278
rs765302278
VPS13B
1 1.000 0.320 8 99818824 frameshift variant G/- delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs764776104
rs764776104
VPS13B
1 1.000 0.320 8 99147912 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs764544747
rs764544747
VPS13B
1 1.000 0.320 8 99442429 frameshift variant T/- delins 4.0E-06 0.700 0
dbSNP: rs764225649
rs764225649
VPS13B
1 1.000 0.320 8 99481803 splice donor variant G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs763909903
rs763909903
VPS13B
1 1.000 0.320 8 99641924 frameshift variant C/- del 2.0E-05 0.700 0