Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs4263839
TNFSF15
0.807 0.160 9 114804160 intron variant A/G snv 0.75 7
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 3
rs148292941
B4GALT3 ; PPOX
1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05 4
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1672753
CRBN
0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 4
rs6768972
CRBN
1.000 0.160 3 3180101 upstream gene variant A/C;G snv 2