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: rs1561873941
rs1561873941
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
14 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909
9 0.925 0.200 6 43044835 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518871
rs1057518871
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs139751598
rs139751598
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 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
dbSNP: rs863225045
rs863225045
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0