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: rs1010980331
rs1010980331
MPRIP ; FLCN
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs104893829
rs104893829
VHL
4 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1060502375
rs1060502375
FLCN
3 0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs10771279
rs10771279
ITPR2
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs11203289
rs11203289
SDHB
3 0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2011 2011
dbSNP: rs1131690838
rs1131690838
FLCN
3 0.925 0.120 17 17228135 frameshift variant C/- del 0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
SDHB
6 0.827 0.280 1 17054017 start lost C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1154454
rs1154454
ADH7
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs11708581
rs11708581
DNAH1
5 0.827 0.160 3 52394972 synonymous variant C/A snv 8.3E-02 7.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs12163565
rs12163565
DNAH1
5 0.827 0.160 3 52396510 missense variant G/A snv 0.19 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1259293
rs1259293
FSTL1
2 0.925 0.120 3 120421014 intron variant T/C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs12617313
rs12617313
EPAS1
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1312268347
rs1312268347
SARDH
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2012 2012
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: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013