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: rs292001
rs292001
6 0.807 0.320 1 22638465 intron variant G/A snv 0.54 0.020 1.000 2 2011 2015
dbSNP: rs1206255976
rs1206255976
4 0.851 0.160 1 22637618 start lost T/G snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs121909581
rs121909581
2 0.925 0.080 1 22639291 stop gained C/T snv 3.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2012 2012