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: rs869025615
rs869025615
VHL
2 1.000 0.120 3 10142009 frameshift variant G/-;GG delins 0.700 1.000 4 1995 2016
dbSNP: rs730882037
rs730882037
VHL
1 3 10142026 frameshift variant G/- delins 0.700 0
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 7 1998 2014
dbSNP: rs730882031
rs730882031
VHL
2 1.000 0.120 3 10142039 frameshift variant C/- del 0.700 0
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: rs730882039
rs730882039
VHL
1 3 10142066 frameshift variant GG/- del 0.700 0
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: 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: rs786202787
rs786202787
VHL
2 1.000 0.120 3 10142085 missense variant A/C;G snv 0.700 1.000 6 1997 2014
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: rs5030827
rs5030827
VHL
4 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.700 1.000 7 1995 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: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.700 1.000 6 1995 2016
dbSNP: rs1131690960
rs1131690960
VHL
1 3 10142109 protein altering variant -/GGC delins 0.700 1.000 2 2002 2012
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: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 2 1999 2005
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs1131690964
rs1131690964
VHL
2 1.000 0.120 3 10142124 frameshift variant G/- delins 0.700 1.000 3 1994 1998
dbSNP: rs5030829
rs5030829
VHL
2 1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs1131690959
rs1131690959
VHL
1 3 10142133 stop gained C/T snv 0.700 0
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 6 2003 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: rs869025631
rs869025631
VHL
2 1.000 0.120 3 10142179 missense variant G/A;T snv 0.700 0
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