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: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.720 0.500 2 2011 2015
dbSNP: rs10248566
rs10248566 		1 1.000 0.040 7 91638848 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs11937871
rs11937871 		1 1.000 0.040 4 103871299 upstream gene variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs12429186
rs12429186 		1 1.000 0.040 13 33718141 regulatory region variant T/C snv 2.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs2501443
rs2501443 		1 1.000 0.040 7 122902383 intergenic variant A/G snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs253296
rs253296 		1 1.000 0.040 5 150573187 intergenic variant G/A snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs312620
rs312620 		1 1.000 0.040 5 143980913 intergenic variant T/A snv 4.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs4959523
rs4959523 		1 1.000 0.040 6 1193180 intergenic variant A/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs6546680
rs6546680 		1 1.000 0.040 2 71236304 regulatory region variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs7023221
rs7023221 		1 1.000 0.040 9 16085264 intergenic variant T/C snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs7192993
rs7192993 		1 1.000 0.040 16 7961213 intron variant A/G snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs7523497
rs7523497 		1 1.000 0.040 1 62387475 regulatory region variant A/G snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs7802723
rs7802723 		1 1.000 0.040 7 138244561 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs821693
rs821693 		1 1.000 0.040 10 106360432 intergenic variant A/G;T snv 0.87 0.700 1.000 1 2011 2011
dbSNP: rs967004
rs967004 		1 1.000 0.040 4 141923771 intergenic variant G/A snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs9958292
rs9958292 		1 1.000 0.040 18 7303203 upstream gene variant G/T snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs4331
rs4331
ACE
1 1.000 0.040 17 63486691 synonymous variant A/G snv 0.50 0.46 0.010 1.000 1 2019 2019
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2019 2019
dbSNP: rs876660612
rs876660612
APC
1 1.000 0.040 5 112819236 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs6836703
rs6836703
ART3
1 1.000 0.040 4 76108994 intron variant G/A snv 0.17 0.010 1.000 1 2008 2008
dbSNP: rs200847762
rs200847762
ATF6B ; FKBPL
7 0.790 0.160 6 32129371 missense variant G/A snv 2.7E-04 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs138178131
rs138178131
ATP7A ; PGK1 ; PGAM4
1 1.000 0.040 X 77969564 missense variant C/A;G snv 5.5E-06; 3.2E-03 7.9E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs7226979
rs7226979
BCL2
3 0.925 0.120 18 63257737 intron variant C/T snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs3088232
rs3088232
BRDT
1 1.000 0.040 1 91979700 missense variant C/G;T snv 0.21; 1.6E-05 0.010 < 0.001 1 2014 2014