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: rs1065852
rs1065852
17 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2006 2006
dbSNP: rs112894280
rs112894280
1 1.000 0.080 5 162093956 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs118192250
rs118192250
5 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121918622
rs121918622
7 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs137852776
rs137852776
5 0.827 0.080 6 52452799 missense variant T/C snv 3.5E-03 2.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs2486253
rs2486253
3 0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv 0.010 1.000 1 2015 2015
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: rs727502818
rs727502818
7 0.790 0.160 11 17772053 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs74315390
rs74315390
6 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs7588807
rs7588807
2 0.925 0.080 2 219574380 intron variant G/T snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs797044927
rs797044927
3 0.925 0.080 2 165388746 missense variant G/A snv 0.010 1.000 1 2011 2011