Gene: VHL ×
Source: INFERRED ×
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: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.810 1.000 26 1994 2017
dbSNP: rs1553619431
rs1553619431
VHL
2 0.925 0.160 3 10142109 missense variant T/A;C snv 0.800 1.000 22 1993 2017
dbSNP: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.800 1.000 19 1993 2017
dbSNP: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.800 1.000 18 1994 2014
dbSNP: rs1559426203
rs1559426203
VHL
2 0.925 0.160 3 10142178 missense variant A/G;T snv 0.700 1.000 17 1994 2017
dbSNP: rs869025652
rs869025652
VHL
2 0.925 0.160 3 10146608 frameshift variant GC/- del 0.700 1.000 15 1994 2014
dbSNP: rs397516441
rs397516441
VHL
3 0.882 0.200 3 10149790 missense variant A/G snv 0.800 1.000 14 1993 2017
dbSNP: rs5030804
rs5030804
VHL
3 0.925 0.160 3 10142080 missense variant A/C;G;T snv 0.810 1.000 14 1996 2017
dbSNP: rs5030832
rs5030832
VHL
2 0.925 0.160 3 10146535 missense variant A/G snv 0.800 1.000 14 1994 2017
dbSNP: rs869025631
rs869025631
VHL
2 1.000 0.120 3 10142179 missense variant G/A;T snv 0.800 1.000 12 1993 2017
dbSNP: rs869025655
rs869025655
VHL
3 0.925 0.160 3 10146625 missense variant T/C;G snv 0.700 1.000 12 1999 2018
dbSNP: rs267607170
rs267607170
VHL
1 0.882 0.200 3 10149814 missense variant A/G snv 0.800 1.000 11 1993 2017
dbSNP: rs794726890
rs794726890
VHL
2 0.925 0.160 3 10142092 missense variant G/C;T snv 0.800 1.000 11 2000 2017
dbSNP: rs104893824
rs104893824
VHL
2 0.776 0.320 3 10142181 missense variant T/A;C snv 0.810 1.000 10 1993 2017
dbSNP: rs5030814
rs5030814
VHL
2 0.925 0.160 3 10146638 splice donor variant T/C;G snv 0.700 1.000 10 1996 2014
dbSNP: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 10 1995 2016
dbSNP: rs1553619440
rs1553619440
VHL
1 1.000 0.120 3 10142125 missense variant G/A;T snv 0.800 1.000 9 1993 2017
dbSNP: rs730882035
rs730882035
VHL
3 0.807 0.200 3 10149805 missense variant G/A snv 0.850 1.000 9 1995 2017
dbSNP: rs869025636
rs869025636
VHL
2 0.925 0.160 3 10142187 missense variant G/A;C snv 0.800 1.000 9 1993 2017
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 8 1998 2014
dbSNP: rs1553619948
rs1553619948
VHL
2 0.882 0.200 3 10146528 missense variant T/C snv 0.800 1.000 8 1993 2017
dbSNP: rs5030817
rs5030817
VHL
1 1.000 0.120 3 10149786 splice acceptor variant G/A;C;T snv 0.700 1.000 8 1994 2007
dbSNP: rs864622646
rs864622646
VHL
1 1.000 0.120 3 10146518 missense variant C/A;G;T snv 0.700 1.000 8 1995 2015
dbSNP: rs1553620313
rs1553620313
VHL
1 1.000 0.120 3 10149807 missense variant T/C snv 0.800 1.000 7 1993 2017
dbSNP: rs5030826
rs5030826
VHL
5 0.827 0.200 3 10142041 stop gained C/A;G;T snv 0.800 1.000 7 1994 2017