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: rs718314
rs718314
3 1.000 0.107 12 26300350 intron variant A/G snp 0.28 0.830 1.000 4 2012 2017
dbSNP: rs1049380
rs1049380
3 0.878 0.107 12 26336611 3 prime UTR variant G/T snp 0.67 0.820 1.000 3 2012 2017
dbSNP: rs7579899
rs7579899
1 1.000 0.107 2 46310465 intron variant A/G snp 0.50 0.820 1.000 3 2011 2017
dbSNP: rs7105934
rs7105934
3 0.878 0.107 11 69424973 regulatory region variant G/A,C snp 0.22; 3.2E-05 0.810 1.000 4 2011 2017
dbSNP: rs11894252
rs11894252
1 1.000 0.107 2 46306237 intron variant T/A,C,G snp 0.51; 9.6E-05 0.810 1.000 3 2011 2017
dbSNP: rs12105918
rs12105918
1 1.000 0.107 2 144450626 intron variant T/C snp 5.5E-02 0.800 2 2013 2017
dbSNP: rs4765623
rs4765623
1 1.000 0.107 12 124836304 intron variant C/T snp 0.36 0.800 2 2011 2017
dbSNP: rs72858496
rs72858496
1 1.000 0.107 2 144452349 intron variant C/T snp 5.4E-02 0.800 2 2013 2016
dbSNP: rs10054504
rs10054504
1 1.000 0.107 5 32000377 intron variant T/A,C snp 0.70 0.800 1 2013 2013
dbSNP: rs121913243
rs121913243
MET
5 0.821 0.143 7 116777410 missense variant A/C,G snp 1.2E-05 0.700 3 1998 2017
dbSNP: rs121913346
rs121913346
VHL
4 0.878 0.179 3 10149796 missense variant T/A,C snp 0.700 2 2002 2015
dbSNP: rs5030807
rs5030807
VHL
5 0.846 0.214 3 10142113 missense variant T/A,C snp 0.700 2 2002 2015
dbSNP: rs5030820
rs5030820
VHL
7 0.821 0.214 3 10149822 missense variant C/G,T snp 8.0E-06 0.700 2 1995 2015
dbSNP: rs10211665
rs10211665
1 1.000 0.107 2 46298957 intron variant T/C snp 0.56 0.700 1 2011 2011
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs1057519913
rs1057519913
3 0.923 0.107 1 11157172 missense variant G/C snp 0.700 1 2016 2016
dbSNP: rs1057519914
rs1057519914
4 0.878 0.214 1 11157174 missense variant A/G snp 0.700 1 2016 2016
dbSNP: rs1057519915
rs1057519915
4 0.878 0.143 1 11109318 missense variant A/C snp 0.700 1 2016 2016
dbSNP: rs1057519916
rs1057519916
4 0.878 0.143 1 11109320 missense variant T/A snp 0.700 1 2016 2016
dbSNP: rs1057519917
rs1057519917
6 0.821 0.143 1 11124517 missense variant A/T snp 0.700 1 2016 2016
dbSNP: rs1057519920
rs1057519920
6 0.801 0.143 2 177234232 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519921
rs1057519921
6 0.801 0.143 2 177234231 missense variant T/C snp 0.700 1 2016 2016
dbSNP: rs1057519929
rs1057519929
8 0.801 0.143 3 179199066 missense variant G/A snp 0.700 1 2016 2016
dbSNP: rs1057519932
rs1057519932
21 0.679 0.286 3 179234298 missense variant T/G snp 0.700 1 2016 2016
dbSNP: rs1057519949
rs1057519949
4 0.846 0.107 7 151490964 missense variant A/T snp 0.700 1 2016 2016