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: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1064795760
rs1064795760
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1553621496
rs1553621496
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1553770577
rs1553770577
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1554846212
rs1554846212
9 0.851 0.160 10 75030037 missense variant C/T snv 0.700 0
dbSNP: rs1555452127
rs1555452127
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1555939456
rs1555939456
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1561273261
rs1561273261
17 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs794727774
rs794727774
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs796052243
rs796052243
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs797045412
rs797045412
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs369160589
rs369160589
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0