Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11001109
ADK
10 74683339 intron variant A/G snv 0.68 1
rs1444879414
ALDH7A1
5 126595148 frameshift variant -/T delins 6.0E-06 1
rs778003597
ALDH7A1
5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06 1
rs786205724
ANK2
4 113282730 missense variant C/T snv 1
rs370079169
CACNA1H
16 1213792 missense variant G/A;C snv 3.7E-04; 1.2E-05 1
rs375562245
CTSF
11 66566363 stop gained G/A;C snv 4.0E-06 1
rs1372605067
DEPDC5
22 31821593 frameshift variant CT/- delins 4.0E-06 1
rs1569232705
DEPDC5
22 31897565 stop gained C/G snv 1
rs1085307920
KCNQ2
20 63444805 missense variant C/T snv 1
rs1568927820
KCNQ2
20 63439686 missense variant T/C snv 1
rs1568940442
KCNQ2
20 63444765 missense variant G/A snv 1
rs761188359
KCNQ2
20 63408469 missense variant C/A;G;T snv 1.3E-05 1
rs794727741
KCNQ2
20 63442521 missense variant G/A snv 1
rs1564367605
KCNT1
9 135768856 missense variant G/A snv 1
rs746487237
LAMC2
1 183208049 missense variant C/A;T snv 4.0E-06; 4.0E-06 1
rs61752371
MECP2
X 154030753 missense variant A/G snv 8.3E-05 4.8E-05 1
rs1560747815
MFSD8
4 127939999 splice acceptor variant T/A snv 1
rs868732642
MFSD8
4 127938782 splice donor variant C/A;T snv 4.0E-06 1
rs1443445
NTRK2
9 84919243 intron variant G/A snv 0.81 1
rs3780645
NTRK2
9 84944879 intron variant C/T snv 5.9E-02 1
rs1057517891
POLG
15 89333346 stop gained G/A snv 1
rs886041276
POLG
15 89319275 frameshift variant CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- delins 1
rs797045941
SCN1A-AS1 ; SCN1A
2 166051964 missense variant A/G snv 1
rs796052995
SCN1A-AS1 ; SCN1A ; LOC102724058
2 166013842 stop gained G/A snv 1
rs1553531385
SCN1A ; LOC102724058 ; SCN1A-AS1
2 166012262 frameshift variant AATA/- del 1