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: rs1057518930
rs1057518930
3 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
dbSNP: rs1057516036
rs1057516036
4 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1555222973
rs1555222973
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0