Source: ALL
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: rs9973653
rs9973653
EPAS1
1 1.000 0.120 2 46320970 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs9679290
rs9679290
EPAS1
2 0.925 0.120 2 46330505 intron variant G/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs967461896
rs967461896
TP53
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9420907
rs9420907
STN1
7 0.790 0.320 10 103916707 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs937475913
rs937475913
PRKDC
7 0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2012 2012
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs879255658
rs879255658
FLCN
3 0.882 0.160 17 17228135 start lost C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2011
dbSNP: rs876660807
rs876660807
TP53
12 0.763 0.160 17 7674248 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs876660333
rs876660333
TP53
13 0.742 0.360 17 7673805 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs869025668
rs869025668
VHL
3 0.882 0.240 3 10149964 stop lost G/T snv 0.010 1.000 1 2011 2011
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: rs869025212
rs869025212
BAP1
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863224451
rs863224451
TP53
20 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs854560
rs854560
PON1
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: rs843711
rs843711
ACYP2
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs8106822
rs8106822
LOC107985311
2 0.925 0.120 19 31373516 intron variant G/A snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs8081059
rs8081059
SLC39A11
2 0.925 0.120 17 73072580 intron variant C/A snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2018 2018
dbSNP: rs7913447
rs7913447
ANAPC16
1 1.000 0.120 10 72232282 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs78971134
rs78971134 		1 1.000 0.120 12 107258753 intergenic variant A/G snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs786205165
rs786205165
MTOR
4 0.882 0.120 1 11157173 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
TP53
21 0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786202724
rs786202724
MET
5 0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 0.700 0