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: rs10069690
rs10069690
16 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.750 1.000 6 2011 2019
dbSNP: rs2853669
rs2853669
1 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.740 0.800 1 2016 2018
dbSNP: rs2242652
rs2242652
2 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.710 1.000 1 2013 2016
dbSNP: rs7726159
rs7726159
1 0.790 0.160 5 1282204 intron variant C/A snv 0.29 0.710 1.000 1 2015 2016
dbSNP: rs3215401
rs3215401
1 1.000 0.080 5 1296140 upstream gene variant -/G delins 0.25 0.700 1.000 2 2017 2017
dbSNP: rs7725218
rs7725218
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016