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: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 3 2011 2018
dbSNP: rs12483959
rs12483959
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 2 2011 2019
dbSNP: rs2281135
rs2281135
10 0.851 0.160 22 43936690 intron variant G/A snv 0.19 0.700 1.000 1 2008 2008
dbSNP: rs2294915
rs2294915
5 1.000 0.040 22 43945024 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs3747207
rs3747207
7 22 43928975 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs4823173
rs4823173
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.700 1.000 1 2019 2019
dbSNP: rs738408
rs738408
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2017 2017