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: 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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
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: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2013 2013
dbSNP: rs3812718
rs3812718
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2019 2019
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