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: rs6785617
rs6785617 		4 0.882 0.120 3 172501054 downstream gene variant A/T snv 3.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs7748275
rs7748275 		3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs8069681
rs8069681 		1 1.000 0.120 17 5064847 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3814113
rs3814113 		5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.820 1.000 5 2009 2013
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.710 1.000 2 2016 2017
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10962692
rs10962692 		3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs111970895
rs111970895 		1 1.000 0.120 5 102301953 upstream gene variant -/AAA;AAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs11907546
rs11907546 		17 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs3760396
rs3760396
CCL2
13 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs561504284
rs561504284 		1 1.000 0.120 17 46262887 upstream gene variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs67397200
rs67397200 		5 0.827 0.160 19 17290595 upstream gene variant C/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs7246045
rs7246045
CGB5
5 0.882 0.120 19 49042825 upstream gene variant T/G snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs527236161
rs527236161
CYTB ; ND6
1 1.000 0.120 MT 14743 upstream gene variant A/G snv 0.700 0
dbSNP: rs1567548789
rs1567548789
TP53
1 1.000 0.120 17 7674159 coding sequence variant -/GGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATG delins 0.700 0
dbSNP: rs1567553717
rs1567553717
TP53
1 1.000 0.120 17 7675151 inframe insertion -/GGGCGGGGGTGTGGAATC delins 0.700 0
dbSNP: rs1558656674
rs1558656674
MSH6 ; FBXO11
1 1.000 0.120 2 47796010 inframe deletion AATTGGCAG/- delins 0.700 0
dbSNP: rs1561199329
rs1561199329
MAP3K1
1 1.000 0.120 5 56881709 inframe deletion TTAGAAATGCTG/- delins 0.700 0
dbSNP: rs1567220542
rs1567220542
PALB2
1 1.000 0.120 16 23634887 inframe deletion CTGATATTTGTG/- delins 0.700 0
dbSNP: rs1567547066
rs1567547066
TP53
1 1.000 0.120 17 7673731 inframe deletion GAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGT/- delins 0.700 0
dbSNP: rs1567549353
rs1567549353
TP53
1 1.000 0.120 17 7674225 inframe deletion CCGCCCATGCAGGAACTGTTACACATG/- delins 0.700 0
dbSNP: rs1567553613
rs1567553613
TP53
1 1.000 0.120 17 7675146 inframe deletion GGTGCCGGG/- delins 0.700 0