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: rs718314
rs718314
LOC105369705
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.840 0.833 6 2012 2019
dbSNP: rs7105934
rs7105934
LOC102724265
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.830 1.000 7 2011 2019
dbSNP: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 5 2011 2019
dbSNP: rs1049380
rs1049380
ITPR2
5 0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 0.820 1.000 4 2012 2019
dbSNP: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 4 2011 2019
dbSNP: rs4765623
rs4765623
SCARB1
2 0.925 0.120 12 124836304 intron variant C/T snv 0.38 0.810 1.000 3 2011 2017
dbSNP: rs12105918
rs12105918
ZEB2
1 1.000 0.120 2 144450626 intron variant T/C snv 6.1E-02 0.800 1.000 2 2013 2017
dbSNP: rs2121266
rs2121266
EPAS1
1 1.000 0.120 2 46308785 intron variant C/A snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs72858496
rs72858496
ZEB2
1 1.000 0.120 2 144452349 intron variant C/T snv 5.9E-02 0.800 1.000 2 2013 2015
dbSNP: rs10054504
rs10054504
PDZD2
1 1.000 0.120 5 32000377 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs6470588
rs6470588
PVT1
1 1.000 0.120 8 127877125 intron variant A/C snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs4903064
rs4903064
DPF3
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.710 1.000 2 2017 2019
dbSNP: rs10936602
rs10936602
LRRIQ4
3 0.882 0.240 3 169818849 upstream gene variant T/C snv 0.26 0.710 1.000 1 2017 2017
dbSNP: rs11813268
rs11813268 		2 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 0.710 1.000 1 2017 2017
dbSNP: rs2241261
rs2241261
RHOBTB2
2 0.925 0.120 8 23019226 3 prime UTR variant C/G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs4381241
rs4381241
FAF1
2 0.925 0.120 1 50441766 intron variant T/C snv 0.51 0.710 1.000 1 2017 2017
dbSNP: rs67311347
rs67311347
ZNF620
2 0.925 0.120 3 40491752 intron variant G/A snv 0.36 0.710 1.000 1 2017 2017
dbSNP: rs74911261
rs74911261
POGLUT3
4 0.882 0.160 11 108486410 missense variant G/A snv 1.6E-02 1.6E-02 0.710 1.000 1 2017 2017
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: 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: rs10211665
rs10211665
EPAS1
1 1.000 0.120 2 46298957 intron variant T/C snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs10484683
rs10484683
SAMD5
1 1.000 0.120 6 147830941 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs104886003
rs104886003
PIK3CA
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
MTOR
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016