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: rs1553619976
rs1553619976
VHL
3 0.925 0.160 3 10146593 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1131690955
rs1131690955
VHL
1 3 10146591 frameshift variant -/A ins 0.700 0
dbSNP: rs1553620312
rs1553620312
VHL
1 3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins 0.700 1.000 1 2012 2012
dbSNP: rs1131690958
rs1131690958
VHL
1 3 10149865 frameshift variant -/C delins 0.700 0
dbSNP: rs1131690960
rs1131690960
VHL
1 3 10142109 protein altering variant -/GGC delins 0.700 1.000 2 2002 2012
dbSNP: rs1131690956
rs1131690956
VHL
1 3 10146531 frameshift variant A/- del 0.700 0
dbSNP: rs1131690961
rs1131690961
VHL
1 3 10146570 missense variant A/C snv 0.700 1.000 2 2010 2015
dbSNP: rs786202787
rs786202787
VHL
2 1.000 0.120 3 10142085 missense variant A/C;G snv 0.700 1.000 6 1997 2014
dbSNP: rs5030804
rs5030804
VHL
3 0.925 0.160 3 10142080 missense variant A/C;G;T snv 0.700 1.000 2 2016 2016
dbSNP: rs869025621
rs869025621
VHL
4 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.700 1.000 2 2013 2016
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 13 1998 2014
dbSNP: rs1131690954
rs1131690954
VHL
1 3 10146639 splice region variant A/G snv 0.700 1.000 3 2011 2015
dbSNP: rs193922613
rs193922613
VHL
3 0.925 0.160 3 10149847 missense variant A/G;T snv 0.700 1.000 7 2004 2014
dbSNP: rs5030816
rs5030816
VHL
3 0.925 0.160 3 10149785 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs730882031
rs730882031
VHL
2 1.000 0.120 3 10142039 frameshift variant C/- del 0.700 0
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: rs193922608
rs193922608
VHL
2 1.000 0.120 3 10142089 missense variant C/A;T snv 4.3E-06; 4.3E-06 0.700 1.000 3 2006 2012
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: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.700 1.000 19 1994 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: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 9 1994 2016
dbSNP: rs765978945
rs765978945
VHL
2 1.000 0.120 3 10142180 missense variant C/G;T snv 4.5E-06 0.700 1.000 8 1995 2015
dbSNP: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.700 1.000 6 1995 2016
dbSNP: rs864622109
rs864622109
VHL
2 1.000 0.120 3 10149878 stop gained C/G;T snv 0.700 1.000 5 1994 2013
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