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 0.730 1.000 4 2011 2019
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs2072906
rs2072906
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs3747206
rs3747206
3 0.882 0.160 22 43928850 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs4823173
rs4823173
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.010 1.000 1 2015 2015