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: rs2243930
rs2243930
1 20 55572404 intron variant G/A snv 0.20 0.700 1.000 2 2017 2018
dbSNP: rs2247627
rs2247627
1 20 55570028 intron variant G/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs559267
rs559267
1 20 55582439 intron variant A/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs559390
rs559390
1 20 55582488 intron variant A/T snv 0.41 0.700 1.000 1 2019 2019