Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs7576192 1.000 0.040 2 120360455 intergenic variant A/G snv 0.68 2
rs7579169 1.000 0.040 2 120360548 intergenic variant T/C snv 0.68 2
rs11617740
FGF14
1.000 0.040 13 102027776 intron variant G/A snv 5.6E-02 2
rs7322722
MYCBP2
1.000 0.040 13 77305241 intron variant G/A snv 0.16 2
rs2839440
ZNF295-AS1
1.000 0.040 21 42023389 intron variant C/T snv 0.16 2
rs12711941 2 120365807 intergenic variant T/A;G snv 1