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: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057518644
rs1057518644
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1057518781
rs1057518781
7 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1057518782
rs1057518782
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518786
rs1057518786
5 1.000 6 33441374 splice region variant G/A snv 0.700 0
dbSNP: rs1057518918
rs1057518918
6 0.882 0.160 6 157184329 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518926
rs1057518926
5 0.925 0.120 3 70977675 missense variant G/C snv 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1057518961
rs1057518961
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1057519440
rs1057519440
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs1060499733
rs1060499733
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1085307451
rs1085307451
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1085308051
rs1085308051
6 0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1131692227
rs1131692227
6 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
dbSNP: rs1131692228
rs1131692228
5 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
dbSNP: rs1131692231
rs1131692231
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs1131692270
rs1131692270
2 1.000 0.160 1 151412327 missense variant T/C snv 0.700 0
dbSNP: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019