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: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs758946412
rs758946412
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1131692228
rs1131692228
5 0.925 0.160 7 100646637 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: rs869312693
rs869312693
3 0.925 0.080 14 102034135 missense variant C/T snv 0.700 0
dbSNP: rs869312672
rs869312672
3 0.925 0.200 10 110577847 missense variant G/A snv 0.700 0
dbSNP: rs878855328
rs878855328
4 0.882 0.120 1 11117039 missense variant C/T snv 0.700 0
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1559759089
rs1559759089
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs1555247805
rs1555247805
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1555038111
rs1555038111
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs34757931
rs34757931
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs397517077
rs397517077
CBL
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs534517447
rs534517447
4 0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 0.700 0
dbSNP: rs869312699
rs869312699
4 0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 0.700 0
dbSNP: rs121918327
rs121918327
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs794727792
rs794727792
8 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs878853165
rs878853165
6 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
dbSNP: rs145465528
rs145465528
7 0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 0.700 0
dbSNP: rs796052676
rs796052676
10 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs121908216
rs121908216
7 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
dbSNP: rs374052333
rs374052333
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 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