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: 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: rs119103277
rs119103277
VHL
3 0.925 0.160 3 10142110 stop gained G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1553619976
rs1553619976
VHL
3 0.925 0.160 3 10146593 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553620312
rs1553620312
VHL
1 3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins 0.700 1.000 1 2012 2012
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: 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: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 2 1999 2005
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.700 1.000 3 2011 2014
dbSNP: rs1131690954
rs1131690954
VHL
1 3 10146639 splice region variant A/G snv 0.700 1.000 3 2011 2015