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: rs7105934
rs7105934
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.830 1.000 7 2011 2019
dbSNP: rs11894252
rs11894252
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 4 2011 2019
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: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2007 2017
dbSNP: rs2267437
rs2267437
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.030 1.000 3 2012 2015
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2007 2011
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 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: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.700 1.000 2 2002 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2015
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2007 2011
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 1.000 2 2002 2014
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 1995 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2011
dbSNP: rs10054504
rs10054504
1 1.000 0.120 5 32000377 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1010980331
rs1010980331
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
4 0.882 0.160 1 11109320 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
10 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016