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: rs1057516034
rs1057516034
5 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1555471098
rs1555471098
6 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
dbSNP: rs1057518913
rs1057518913
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs863225094
rs863225094
10 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
dbSNP: rs376754460
rs376754460
12 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs138632121
rs138632121
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs200426926
rs200426926
13 0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs886041936
rs886041936
14 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
dbSNP: rs1563686762
rs1563686762
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs387906702
rs387906702
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs797044849
rs797044849
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1565706229
rs1565706229
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs886043994
rs886043994
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs387907260
rs387907260
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs796052686
rs796052686
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs1564919048
rs1564919048
23 0.732 0.280 10 121520106 missense variant C/A 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: rs786205124
rs786205124
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs387907145
rs387907145
36 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0