Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs574658589
HPCA
1 32888928 synonymous variant C/T snv 1.2E-05 2
rs550921485
HPCA
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 3
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs515726205
C19orf12
0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs45471299
TH
1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 2
rs398122845
CASK
1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 2
rs397514477
C19orf12
0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 5
rs3842225
TOR1A
0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs374512193
THAP1
0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 4
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs34015634
LRRK2
0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs1566687487
GCH1
14 54902537 frameshift variant -/G delins 1
rs1566658823
GCH1
1.000 0.120 14 54844138 missense variant A/G snv 4