Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs120074152
VPS13B
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 3
rs777593389
VPS13B
1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06 3
rs1057517295
VPS13B
1.000 0.320 8 99096433 splice donor variant G/A;T snv 2
rs1554590314
COX6C ; VPS13B
1.000 0.320 8 99875418 frameshift variant -/AGAT delins 1
rs386834069
COX6C ; VPS13B
1.000 0.320 8 99875502 frameshift variant CCAGCTGTTC/- delins 1
rs773094891
COX6C ; VPS13B
1.000 0.320 8 99875510 stop gained T/A;C;G snv 4.0E-06 1
rs786204456
COX6C ; VPS13B
1.000 0.320 8 99875503 frameshift variant CCAGCTGTTCT/G delins 1
rs933746831
COX6C ; VPS13B
1.000 0.320 8 99875430 stop gained C/T snv 4.0E-06; 4.0E-06 7.0E-06 1
rs1034855385
VPS13B
1.000 0.320 8 99442636 splice donor variant G/A;T snv 1
rs1057516245
VPS13B
1.000 0.320 8 99868333 frameshift variant A/- delins 1
rs1057516274
VPS13B
1.000 0.320 8 99121318 frameshift variant AC/G delins 1
rs1057516276
VPS13B
1.000 0.320 8 99820116 frameshift variant T/- delins 1
rs1057516284
VPS13B
1.000 0.320 8 99870863 frameshift variant CAAA/TGT delins 1
rs1057516287
VPS13B
1.000 0.320 8 99699821 stop gained C/T snv 1
rs1057516302
VPS13B
1.000 0.320 8 99720515 frameshift variant C/- delins 1
rs1057516324
VPS13B
1.000 0.320 8 99121240 frameshift variant A/- del 1
rs1057516331
VPS13B
1.000 0.320 8 99699777 stop gained G/A snv 1
rs1057516422
VPS13B
1.000 0.320 8 99096396 stop gained C/T snv 1
rs1057516437
VPS13B
1.000 0.320 8 99853495 stop gained T/G snv 1
rs1057516484
VPS13B
1.000 0.320 8 99818485 stop gained G/A;C snv 1
rs1057516489
VPS13B
1.000 0.320 8 99699797 stop gained C/T snv 1