Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38