Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1057519450
HEATR4 ; ACOT1
14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins 1
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1555493029
COG7
0.851 0.240 16 23406263 splice acceptor variant C/A snv 10
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs797046136
EBF3 ; LOC105378558
10 129848391 splice donor variant C/A snv 1
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 10