Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs574658589
HPCA
1 32888928 synonymous variant C/T snv 1.2E-05 2
rs753374463
GNAL
18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 2
rs761104644
ZNF415
19 53109614 missense variant A/G snv 4.0E-06 2
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04 1
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1
rs1566687487
GCH1
14 54902537 frameshift variant -/G delins 1
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
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
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37