Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs53576
OXTR ; CAV3
0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1344706
ZNF804A
0.701 0.160 2 184913701 intron variant A/C;T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs4746
GLO1
0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 21
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 19
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18