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: rs1559428267
rs1559428267
VHL
1.000 0.120 3 10146635 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs1559429711
rs1559429711
VHL
1.000 0.120 3 10149849 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs1559429717
rs1559429717
VHL
1.000 0.120 3 10149852 stop gained A/T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs1559429736
rs1559429736
VHL
1.000 0.120 3 10149856 frameshift variant TG/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs1559429778
rs1559429778
VHL
1.000 0.120 3 10149870 frameshift variant T/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs1559429824
rs1559429824
VHL
1.000 0.120 3 10149886 missense variant T/A;C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs1559429829
rs1559429829
VHL
1.000 0.120 3 10149887 frameshift variant G/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs193922608
rs193922608
VHL
1.000 0.120 3 10142089 missense variant C/A;T snv 4.3E-06; 4.3E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs193922610
rs193922610
VHL
1.000 0.120 3 10146544 missense variant C/T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs193922611
rs193922611
VHL
1.000 0.120 3 10146631 missense variant T/A snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs398123482
rs398123482
VHL
1.000 0.120 3 10142173 missense variant T/A snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs5030810
rs5030810
VHL
0.925 0.160 3 10142184 stop gained C/A;T snv 4.6E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs5030813
rs5030813
VHL
1.000 0.120 3 10146567 stop gained C/T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs5030816
rs5030816
VHL
0.925 0.160 3 10149785 splice acceptor variant A/G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs5030829
rs5030829
VHL
1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs749704215
rs749704215
VHL
1.000 0.120 3 10146606 stop gained C/G;T snv 4.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs794727253
rs794727253
VHL
0.925 0.160 3 10146621 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs794729660
rs794729660
VHL
1.000 0.120 3 10142068 inframe deletion ATC/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs864321642
rs864321642
VHL
0.925 0.160 3 10149832 missense variant T/A;C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs864321643
rs864321643
VHL
0.925 0.160 3 10142140 missense variant A/C;G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs864622109
rs864622109
VHL
1.000 0.120 3 10149878 stop gained C/G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs864622545
rs864622545
VHL
0.925 0.160 3 10142103 frameshift variant C/-;CC delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs869025615
rs869025615
VHL
1.000 0.120 3 10142009 frameshift variant G/-;GG delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs869025616
rs869025616
VHL
0.925 0.160 3 10142040 missense variant T/C;G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0
dbSNP: rs869025617
rs869025617
VHL
1.000 0.120 3 10142050 stop gained C/A;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.700 0