Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1026300967
NTRK1
1.000 1 156868246 missense variant T/C snv 2
rs1028668536
GALNS
0.925 0.120 16 88841948 missense variant G/A snv 4.0E-06 7.0E-06 2
rs1045118320
COQ4
0.925 9 128332219 missense variant C/A snv 7.0E-06 3
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 9
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 4
rs104894639
SGSH
0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05 3
rs1057516689
SACS
0.925 0.160 13 23336737 frameshift variant T/- delins 7.0E-06 2
rs1057516904
MCOLN1
0.925 0.160 19 7528881 frameshift variant -/A delins 3
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057517955
KDM5C ; MIR6894
0.925 0.080 X 53199128 missense variant C/T snv 2
rs1057518204
DYRK1A ; LOC105372797
0.925 21 37480659 stop gained C/T snv 2
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518496
SATB2
1.000 2 199349006 stop gained G/A snv 2
rs1057519413
RAD51
0.925 0.120 15 40729955 missense variant G/A snv 2
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs1057521070
TCF4
0.925 0.200 18 55228999 missense variant C/T snv 3
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv 4
rs1064794276
NF1
0.925 0.120 17 31235639 frameshift variant TTTG/- delins 2
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9