Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516484
rs1057516484
VPS13B
1.000 0.320 8 99818485 stop gained G/A;C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516489
rs1057516489
VPS13B
1.000 0.320 8 99699797 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516494
rs1057516494
VPS13B
1.000 0.320 8 99717186 stop gained C/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516558
rs1057516558
VPS13B
1.000 0.320 8 99820081 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516559
rs1057516559
VPS13B
1.000 0.320 8 99766796 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516660
rs1057516660
VPS13B
1.000 0.320 8 99766903 stop gained A/C;T snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516663
rs1057516663
VPS13B
1.000 0.320 8 99717371 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516670
rs1057516670
VPS13B
1.000 0.320 8 99391647 stop gained -/ATCATATCAGGCCTCTGAA delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516681
rs1057516681
VPS13B
1.000 0.320 8 99192883 stop gained A/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517385
rs1057517385
VPS13B
1.000 0.320 8 99871552 stop gained C/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057520769
rs1057520769
VPS13B
1.000 0.320 8 99854124 stop gained A/T snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs120074152
rs120074152
VPS13B
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1301330402
rs1301330402
VPS13B
1.000 0.320 8 99835736 stop gained -/TTT ins 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs140353201
rs140353201
VPS13B
1.000 0.320 8 99467566 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs145741622
rs145741622
VPS13B
1.000 0.320 8 99507858 stop gained C/T snv 4.4E-05 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs146960401
rs146960401
VPS13B
1.000 0.320 8 99720414 stop gained G/T snv 5.6E-05 5.6E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554625632
rs1554625632
VPS13B
1.000 0.320 8 99121266 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554625838
rs1554625838
VPS13B
1.000 0.320 8 99121389 stop gained A/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554666009
rs1554666009
VPS13B
1.000 0.320 8 99192904 stop gained G/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554814266
rs1554814266
VPS13B
1.000 0.320 8 99481613 stop gained T/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1563497844
rs1563497844
VPS13B
1.000 0.320 8 99832454 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1563700205
rs1563700205
VPS13B
1.000 0.320 8 99384315 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs180177359
rs180177359
VPS13B
1.000 0.320 8 99556505 stop gained -/ATA delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs386834060
rs386834060
VPS13B
1.000 0.320 8 99861872 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs386834070
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0