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
3 1.000 0.107 3 10149811 missense variant T/C,G snp 0.700 2 1999 2002
dbSNP: rs78683075
rs78683075
2 1.000 0.107 17 17222565 stop gained G/A snp 2.6E-04 2.9E-04 0.700 2 2008 2011
dbSNP: rs104893751
rs104893751
4 0.846 0.214 3 9750423 missense variant G/A,C snp 2.2E-03; 4.0E-06 1.8E-03 0.700 1 2000 2000
dbSNP: rs147608663
rs147608663
1 1.000 0.107 5 97171338 missense variant A/G snp 2.8E-05; 8.1E-06 9.6E-05 0.700 1 2007 2007
dbSNP: rs372947534
rs372947534
1 1.000 0.107 5 180626237 missense variant G/A snp 4.0E-05 0.700 1 2007 2007
dbSNP: rs587782274
rs587782274
1 1.000 0.107 11 108312465 missense variant A/C snp 0.700 1 2007 2007
dbSNP: rs864321679
rs864321679
1 1.000 0.107 3 52563364 frameshift variant CCTCACTAT/C in-del 0.700 1 2016 2016
dbSNP: rs876658517
rs876658517
1 1.000 0.107 11 108327735 missense variant A/T snp 0.700 1 2007 2007
dbSNP: rs587776825
rs587776825
5 0.821 0.250 12 120994322 frameshift variant C/CC in-del 0.700 0
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 1.000 2 2010 2012
dbSNP: rs104893829
rs104893829
VHL
4 0.846 0.179 3 10142088 missense variant C/T snp 2.0E-04 3.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs1049334
rs1049334
2 0.923 0.179 7 116560326 3 prime UTR variant G/A,T snp 9.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs11762213
rs11762213
MET
2 0.923 0.107 7 116699228 synonymous variant G/A snp 3.3E-02 3.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs12553173
rs12553173
CA9
1 1.000 0.107 9 35674104 synonymous variant T/C snp 0.14 0.21 0.010 1.000 1 2009 2009
dbSNP: rs182052
rs182052
9 0.801 0.250 3 186842993 intron variant G/A snp 0.39 0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
29 0.642 0.464 4 88131171 missense variant G/C,T snp 4.0E-06; 0.12 9.4E-02 0.010 1.000 1 2005 2005
dbSNP: rs266729
rs266729
21 0.679 0.429 3 186841685 intergenic variant C/A,G,T snp 6.4E-05; 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2854744
rs2854744
15 0.707 0.357 7 45921476 intron variant G/T snp 0.48 0.010 1.000 1 2011 2011
dbSNP: rs34589476
rs34589476
MET
3 0.923 0.143 7 116771869 missense variant C/T snp 2.9E-03 2.5E-03 0.010 1.000 1 2015 2015
dbSNP: rs35996865
rs35996865
1 1.000 0.107 18 21112383 regulatory region variant T/G snp 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3774262
rs3774262
3 0.878 0.107 3 186854025 intron variant G/A snp 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs3923594
rs3923594
1 1.000 0.107 11 119317205 intron variant C/T snp 0.010 1.000 1 2018 2018
dbSNP: rs5030821
rs5030821
VHL
8 0.821 0.214 3 10149823 missense variant G/A,C snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs706209
rs706209
CBS
1 1.000 0.107 21 43053315 3 prime UTR variant G/A snp 0.40 0.010 1.000 1 2015 2015
dbSNP: rs71428439
rs71428439
1 1.000 0.107 2 240456083 non coding transcript exon variant A/G snp 0.11 0.14 0.010 1.000 1 2015 2015