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: rs147596965
rs147596965
1 1.000 0.080 10 10074911 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6542993
rs6542993
2 0.925 0.080 2 100824202 intron variant T/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs17024926
rs17024926
4 0.851 0.120 2 100889540 intron variant T/C snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs1369481
rs1369481
2 0.925 0.080 2 100895497 intron variant T/C snv 0.77 0.010 1.000 1 2009 2009
dbSNP: rs895521
rs895521
2 0.925 0.080 2 100935633 intron variant T/C snv 0.84 0.010 1.000 1 2009 2009
dbSNP: rs895520
rs895520
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs746924
rs746924
2 0.925 0.080 2 101008009 missense variant T/C snv 0.61 0.61 0.010 1.000 1 2018 2018
dbSNP: rs779805
rs779805
VHL
4 0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4764695
rs4764695
2 0.925 0.080 12 102363335 non coding transcript exon variant A/G;T snv 0.020 1.000 2 2010 2014
dbSNP: rs6218
rs6218
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs5742612
rs5742612
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs35767
rs35767
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs7965399
rs7965399
5 0.851 0.120 12 102497908 regulatory region variant T/A;C snv 0.030 1.000 3 2006 2015
dbSNP: rs7978742
rs7978742
2 0.925 0.080 12 102497974 regulatory region variant A/G snv 0.14 0.010 1.000 1 2006 2006
dbSNP: rs10895304
rs10895304
2 0.925 0.080 11 102519261 downstream gene variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs11568818
rs11568818
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.720 0.750 4 2013 2018
dbSNP: rs3850699
rs3850699
2 0.925 0.080 10 102654464 non coding transcript exon variant A/G snv 0.32 0.700 1.000 2 2013 2018
dbSNP: rs5490
rs5490
2 0.925 0.080 19 10271151 5 prime UTR variant A/C snv 1.6E-02 6.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 < 0.001 1 2018 2018
dbSNP: rs619824
rs619824
2 0.925 0.080 10 102821531 intron variant A/C snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.050 0.800 5 2007 2015
dbSNP: rs2486758
rs2486758
11 0.742 0.160 10 102837723 upstream gene variant T/C snv 0.18 0.010 1.000 1 2011 2011