Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 30
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 17
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10