Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs2281135
PNPLA3
0.851 0.160 22 43936690 intron variant G/A snv 0.19 10
rs9273349
HLA-DQB1-AS1
0.827 0.200 6 32658092 upstream gene variant T/C;G snv 6