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: rs1553620318
rs1553620318
VHL
1 3 10149810 missense variant C/T snv 0.700 1.000 5 2004 2016
dbSNP: rs1131690962
rs1131690962
VHL
1 3 10149829 missense variant T/C snv 0.700 1.000 4 2000 2015
dbSNP: rs5030825
rs5030825
VHL
1 3 10149906 stop gained C/T snv 0.700 1.000 4 1994 2013
dbSNP: rs1131690954
rs1131690954
VHL
1 3 10146639 splice region variant A/G snv 0.700 1.000 3 2011 2015
dbSNP: rs1131690960
rs1131690960
VHL
1 3 10142109 protein altering variant -/GGC delins 0.700 1.000 2 2002 2012
dbSNP: rs1131690961
rs1131690961
VHL
1 3 10146570 missense variant A/C snv 0.700 1.000 2 2010 2015
dbSNP: rs1131690963
rs1131690963
VHL
1 3 10149904 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1131690965
rs1131690965
VHL
1 3 10146511 splice region variant T/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1553620312
rs1553620312
VHL
1 3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins 0.700 1.000 1 2012 2012
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: rs730882030
rs730882030
VHL
1 3 10149935 frameshift variant GC/- delins 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: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.700 1.000 19 1994 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: rs869025618
rs869025618
VHL
2 1.000 0.120 3 10142061 missense variant T/C snv 0.700 1.000 11 2002 2015
dbSNP: rs104893825
rs104893825
VHL
2 1.000 0.120 3 10149819 missense variant G/T snv 0.700 1.000 8 1996 2010
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: rs786202787
rs786202787
VHL
2 1.000 0.120 3 10142085 missense variant A/C;G snv 0.700 1.000 6 1997 2014
dbSNP: rs193922609
rs193922609
VHL
2 1.000 0.120 3 10142167 missense variant G/A;C snv 0.700 1.000 5 1998 2012
dbSNP: rs864622109
rs864622109
VHL
2 1.000 0.120 3 10149878 stop gained C/G;T snv 0.700 1.000 5 1994 2013