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: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2017 2017
dbSNP: rs581724
rs581724
TEK
3 0.882 0.120 9 27187424 intron variant G/T snv 0.45 0.010 1.000 1 2018 2018