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 0.100 0.944 89 2009 2020
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 2 2012 2018
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs2294918
rs2294918
3 0.925 0.040 22 43946236 missense variant A/G snv 0.68 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017