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: rs2544390
rs2544390
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs3755166
rs3755166
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018