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: rs28940297
rs28940297
VHL
4 0.882 0.240 3 10149811 missense variant T/C;G snv 0.700 1.000 1 2002 2002
dbSNP: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs104893829
rs104893829
VHL
4 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.020 1.000 2 2013 2017
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1642742
rs1642742
VHL
1 1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1642743
rs1642743
VHL
1 1.000 0.120 3 10148783 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs776399733
rs776399733
VHL
3 0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs779805
rs779805
VHL
4 0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs869025621
rs869025621
VHL
4 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs869025668
rs869025668
VHL
3 0.882 0.240 3 10149964 stop lost G/T snv 0.010 1.000 1 2011 2011