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: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.810 1.000 3 2009 2019
dbSNP: rs31489
rs31489
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.810 1.000 2 2009 2014
dbSNP: rs380286
rs380286
8 0.776 0.200 5 1320132 intron variant G/A snv 0.47 0.700 1.000 1 2019 2019