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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.100 0.889 27 2003 2019
dbSNP: rs1799794
rs1799794
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.060 0.667 6 2011 2017
dbSNP: rs1799796
rs1799796
7 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 0.030 0.667 3 2011 2016
dbSNP: rs28903081
rs28903081
5 0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs3212057
rs3212057
2 0.925 0.080 14 103707128 missense variant C/T snv 1.4E-03 6.3E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs45603942
rs45603942
2 0.925 0.080 14 103712895 5 prime UTR variant G/A snv 1.2E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs861529
rs861529
2 0.925 0.080 14 103712977 3 prime UTR variant T/C snv 0.91 0.010 1.000 1 2007 2007
dbSNP: rs861530
rs861530
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 < 0.001 1 2016 2016