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: rs61776719
rs61776719 		11 0.776 0.120 1 37995647 downstream gene variant C/A snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs658191
rs658191
MACF1
9 0.790 0.080 1 39458103 non coding transcript exon variant C/G snv 6.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs6658977
rs6658977 		9 0.790 0.080 1 221876478 downstream gene variant G/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517
LAMC1
10 0.776 0.080 1 183033504 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6691170
rs6691170 		12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs6691195
rs6691195 		9 0.790 0.080 1 221989031 downstream gene variant C/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs7528276
rs7528276
MACF1
9 0.790 0.080 1 39344315 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs7542665
rs7542665
L1TD1
9 0.790 0.080 1 62207365 missense variant T/C snv 0.63 0.67 0.700 1.000 1 2019 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
10 0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46 0.700 1.000 2 2018 2019
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
XPO1
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11692435
rs11692435
ACTR1B
10 0.790 0.080 2 97658891 missense variant G/A snv 7.0E-02 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs11884596
rs11884596
LOC105373831
10 0.776 0.080 2 198747683 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs11893063
rs11893063
LOC105373831
9 0.790 0.080 2 198737201 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11903757
rs11903757 		11 0.763 0.160 2 191722478 intron variant T/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
9 0.790 0.080 2 218319713 intron variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1367374
rs1367374 		9 0.790 0.080 2 153074663 intergenic variant G/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs2901879
rs2901879 		9 0.790 0.080 2 66738934 intergenic variant C/T snv 0.54 0.700 1.000 1 2014 2014
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
10 0.776 0.080 2 218326533 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs448513
rs448513
TANC1
10 0.776 0.080 2 159108040 intron variant T/C snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs4849303
rs4849303
ACOXL
9 0.790 0.080 2 110970905 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4954585
rs4954585 		9 0.790 0.080 2 136240824 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6720296
rs6720296
LINC01121
9 0.790 0.080 2 45181130 intron variant A/C snv 0.52 0.700 1.000 1 2015 2015