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: rs7697932
rs7697932
1 1.000 0.120 4 100084161 intron variant A/G snv 0.72 0.700 1.000 1 2017 2017
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: 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: 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: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs104893829
rs104893829
VHL
4 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 1.000 2 2002 2014
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: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.700 1.000 2 2002 2014
dbSNP: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 1995 2014
dbSNP: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs869025668
rs869025668
VHL
3 0.882 0.240 3 10149964 stop lost G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs5742714
rs5742714
3 0.882 0.160 12 102396074 3 prime UTR variant C/G snv 8.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs9420907
rs9420907
7 0.790 0.320 10 103916707 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs11813268
rs11813268
2 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 0.710 1.000 1 2017 2017
dbSNP: rs2297235
rs2297235
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs156697
rs156697
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs6466135
rs6466135
2 0.925 0.120 7 106861053 upstream gene variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs17037102
rs17037102
6 0.807 0.240 4 106924637 missense variant C/A;T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs78971134
rs78971134
1 1.000 0.120 12 107258753 intergenic variant A/G snv 7.7E-02 0.700 1.000 1 2019 2019