Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555546796
ARHGEF15
1.000 0.040 17 8313029 inframe deletion GTCCCCCGTCGGGCC/- del 1
rs587777420
NECAP1
0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 2
rs936639741
SLC25A22
1.000 0.040 11 793551 stop gained G/A snv 1
rs1554965669
SLC25A22
0.925 0.040 11 792888 stop gained G/A snv 2
rs118192194
KCNQ2 ; KCNQ2-AS1
0.882 0.040 20 63446769 missense variant G/A snv 3
rs1555873981
KCNQ2-AS1 ; KCNQ2
1.000 0.040 20 63445313 frameshift variant C/- delins 1
rs1555873823
KCNQ2
1.000 0.040 20 63444834 missense variant T/C snv 1
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs74315391
KCNQ2
0.827 0.120 20 63444730 missense variant G/A snv 6
rs886041262
KCNQ2
0.851 0.080 20 63444720 missense variant C/G;T snv 6
rs397514581
KCNQ2
0.882 0.040 20 63444711 missense variant C/T snv 3
rs1555873656
KCNQ2
1.000 0.040 20 63444662 frameshift variant G/- del 1
rs794727740
KCNQ2
0.925 0.040 20 63442429 missense variant C/G;T snv 3
rs727503974
KCNQ2
0.925 0.040 20 63439704 missense variant G/A snv 2
rs1057516097
KCNQ2
0.882 0.040 20 63439671 missense variant G/T snv 3
rs1057516098
KCNQ2
0.925 0.040 20 63439657 missense variant C/T snv 2
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs864321707
KCNQ2
0.882 0.040 20 63439608 missense variant G/A snv 3
rs1555869758
KCNQ2
1.000 0.040 20 63438654 missense variant T/C snv 3
rs118192215
KCNQ2
0.925 0.040 20 63438651 missense variant G/A snv 2
rs747376305
LOC105372721 ; KCNQ2
1.000 0.040 20 63433841 stop gained G/A;C snv 4.0E-06 1.4E-05 1
rs796052657
KCNQ2
1.000 0.040 20 63428424 frameshift variant G/- delins 1
rs886041339
KCNQ2
0.925 0.040 20 63424195 frameshift variant G/-;GG delins 3
rs118192226
KCNQ2
0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 3
rs878855236
KCNQ2
1.000 0.040 20 63415039 frameshift variant CA/- delins 1