Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs879255273
CCN6
0.925 0.040 6 112064998 splice donor variant G/A snv 7
rs886037856
BHLHA9
0.882 0.080 17 1270783 missense variant GA/TT mnv 4