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: rs3755724
rs3755724
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs3761847
rs3761847
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs3789243
rs3789243
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs3815824
rs3815824
MVP
1 1.000 0.040 16 29841539 intron variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs3903529
rs3903529
3 0.882 0.120 9 74649312 intron variant T/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs39861
rs39861
1 1.000 0.040 5 66856430 intron variant A/G snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs42938
rs42938
1 1.000 0.040 22 30569770 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs4817027
rs4817027
2 0.925 0.040 21 25566677 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs4840200
rs4840200
1 1.000 0.040 6 101879428 intron variant T/C snv 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs4906902
rs4906902
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs55949311
rs55949311
2 1.000 0.040 13 53557781 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs59007384
rs59007384
4 0.851 0.080 19 44893408 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs61822012
rs61822012
1 1.000 0.040 1 160071368 intron variant A/G snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs62270313
rs62270313
2 1.000 0.040 3 134930924 intron variant T/C snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs631844
rs631844
2 1.000 0.040 5 29054513 intron variant C/T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs6432877
rs6432877
1 1.000 0.040 2 166142257 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6732655
rs6732655
1 1.000 0.040 2 166038556 intron variant A/T snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs694539
rs694539
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs6949448
rs6949448
1 1.000 0.040 7 87512498 intron variant T/C snv 0.63 0.010 < 0.001 1 2011 2011
dbSNP: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.010 1.000 1 2016 2016
dbSNP: rs7127507
rs7127507
6 0.827 0.080 11 27693337 intron variant T/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs7171755
rs7171755
2 0.925 0.120 15 73558239 intron variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs72700966
rs72700966
1 1.000 0.040 9 10505224 intron variant C/G;T snv 0.700 1.000 1 2014 2014