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: rs121913243
rs121913243
MET
7 0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 0.700 1.000 2 2013 2014
dbSNP: rs121913244
rs121913244
MET
2 0.925 0.120 7 116777409 missense variant C/T snv 0.700 1.000 2 2008 2014
dbSNP: rs121913245
rs121913245
MET
3 0.925 0.120 7 116783420 missense variant T/C snv 0.700 1.000 2 2013 2014
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 1.000 2 2002 2014
dbSNP: rs1057519777
rs1057519777
1 1.000 0.120 1 11109304 missense variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519778
rs1057519778
1 1.000 0.120 1 11122122 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519779
rs1057519779
2 0.925 0.200 1 11157242 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs587777894
rs587777894
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1049380
rs1049380
5 0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs1805010
rs1805010
12 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2016 2016
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: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7105934
rs7105934
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007