Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1
rs137852968
MIR103A2 ; PANK2
0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 3
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 3
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv 3
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs1566658823
GCH1
1.000 0.120 14 54844138 missense variant A/G snv 4
rs1566687487
GCH1
14 54902537 frameshift variant -/G delins 1
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14