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: rs12963943
rs12963943
2 18 46225695 intron variant C/T snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs144667737
rs144667737
2 18 46189157 intron variant G/A snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs3842397
rs3842397
3 18 46265918 3 prime UTR variant TT/- del 0.43 0.700 1.000 1 2016 2016
dbSNP: rs9944715
rs9944715
3 18 46251293 intron variant A/G snv 0.62 0.700 1.000 1 2016 2016