Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 4
rs794726775
SCN1A-AS1 ; SCN1A
0.882 0.040 2 166039420 splice region variant T/A snv 4
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs774843232
PGAP2
0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 9
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06 7
rs587782991
PURA
0.882 0.080 5 140114991 inframe deletion TCT/- delins 6
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs587782999
PURA
0.882 0.080 5 140114446 missense variant G/A;C snv 6
rs587783001
PURA
0.882 0.080 5 140114777 missense variant G/C snv 6
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs886041262
KCNQ2
0.851 0.080 20 63444720 missense variant C/G;T snv 6
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs587782992
PURA
0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 5
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs587782998
PURA
0.882 0.080 5 140114651 missense variant T/A snv 5
rs587783000
PURA
0.925 0.080 5 140114444 inframe deletion TCG/- del 5
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv 4