Gene: VHL ×
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: rs1131690955
rs1131690955
VHL
1 3 10146591 frameshift variant -/A ins 0.700 0
dbSNP: rs1131690956
rs1131690956
VHL
1 3 10146531 frameshift variant A/- del 0.700 0
dbSNP: rs1131690958
rs1131690958
VHL
1 3 10149865 frameshift variant -/C delins 0.700 0
dbSNP: rs1131690959
rs1131690959
VHL
1 3 10142133 stop gained C/T snv 0.700 0
dbSNP: rs1553619957
rs1553619957
VHL
1 3 10146560 frameshift variant G/- delins 0.700 0
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs5030816
rs5030816
VHL
3 0.925 0.160 3 10149785 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs5030829
rs5030829
VHL
2 1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs730882030
rs730882030
VHL
1 3 10149935 frameshift variant GC/- delins 0.700 0
dbSNP: rs730882031
rs730882031
VHL
2 1.000 0.120 3 10142039 frameshift variant C/- del 0.700 0
dbSNP: rs730882037
rs730882037
VHL
1 3 10142026 frameshift variant G/- delins 0.700 0
dbSNP: rs730882039
rs730882039
VHL
1 3 10142066 frameshift variant GG/- del 0.700 0
dbSNP: rs869025631
rs869025631
VHL
2 1.000 0.120 3 10142179 missense variant G/A;T snv 0.700 0
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.700 1.000 21 1996 2016
dbSNP: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.700 1.000 19 1994 2016
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.700 1.000 14 1994 2013
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 13 1998 2014
dbSNP: rs5030622
rs5030622
VHL
3 0.925 0.160 3 10149809 stop gained C/A;G snv 0.700 1.000 13 1995 2016
dbSNP: rs5030802
rs5030802
VHL
2 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.700 1.000 12 1995 2016
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 12 1994 2017
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 1994 2016
dbSNP: rs869025618
rs869025618
VHL
2 1.000 0.120 3 10142061 missense variant T/C snv 0.700 1.000 11 2002 2015
dbSNP: rs5030822
rs5030822
VHL
3 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.700 1.000 10 1994 2008
dbSNP: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 9 1994 2016
dbSNP: rs5030830
rs5030830
VHL
3 0.925 0.160 3 10146526 missense variant T/C;G snv 0.700 1.000 9 1994 2012