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: rs944688
rs944688
1 1.000 0.040 9 98601678 intron variant C/T snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs11191692
rs11191692
1 1.000 0.040 10 103454008 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs17110747
rs17110747
4 0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs1867283
rs1867283
5 0.925 0.080 9 84835851 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2012 2012
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: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs35753505
rs35753505
6 0.827 0.080 8 31616625 intergenic variant T/A;C snv 0.010 1.000 1 2016 2016