Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27