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: rs17049722
rs17049722
1 2 58749728 intron variant C/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs62144560
rs62144560
1 2 58758196 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019