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: rs771237928
rs771237928
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs755604487
rs755604487
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs61750420
rs61750420
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 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: rs797045412
rs797045412
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs104886033
rs104886033
10 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs397517077
rs397517077
CBL
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
dbSNP: rs1566785444
rs1566785444
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1057518848
rs1057518848
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0