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: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2018 2020
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2018 2018