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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2011
dbSNP: rs1057519915
rs1057519915
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs4662750
rs4662750
1 1.000 0.120 2 127634972 non coding transcript exon variant A/C snv 0.69 0.700 1.000 1 2017 2017
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2015 2015
dbSNP: rs6470588
rs6470588
1 1.000 0.120 8 127877125 intron variant A/C snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1057520002
rs1057520002
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11637556
rs11637556
1 1.000 0.120 15 66436613 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6937133
rs6937133
2 0.925 0.120 6 39832238 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs7859384
rs7859384
6 0.882 0.120 9 79507370 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913243
rs121913243
MET
7 0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs132793
rs132793
7 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs530941076
rs530941076
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
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: rs876660333
rs876660333
13 0.742 0.360 17 7673805 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.040 0.750 4 2017 2018
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 < 0.001 1 2007 2007
dbSNP: rs718314
rs718314
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.840 0.833 6 2012 2019