Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins 6
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 4
rs1558811557
CNGA3
0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 5
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs765919785
COL18A1 ; MIR6815
0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 4
rs1384483492
PRPH ; LOC101927267
0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 2
rs142248415
MANBA
1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04 1
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 5
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34