Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553534296
rs1553534296
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166015725 frameshift variant TT/- delins 0.700 0
dbSNP: rs1553540389
rs1553540389
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166036395 frameshift variant T/- delins 0.700 0
dbSNP: rs1553542199
rs1553542199
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166039443 frameshift variant -/GATA delins 0.700 0
dbSNP: rs1553543215
rs1553543215
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166041295 frameshift variant AA/- delins 0.700 0
dbSNP: rs1553544559
rs1553544559
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043754 stop gained A/T snv 0.700 0
dbSNP: rs1553544821
rs1553544821
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043917 stop gained C/A snv 0.700 0
dbSNP: rs1553545522
rs1553545522
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166045117 frameshift variant TGATG/- del 0.700 0
dbSNP: rs1553545660
rs1553545660
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166045190 frameshift variant TTCTT/- delins 0.700 0
dbSNP: rs1553549483
rs1553549483
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166051742 frameshift variant GTCA/- delins 0.700 0
dbSNP: rs1553551385
rs1553551385
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166054674 frameshift variant G/- delins 0.700 0
dbSNP: rs1553552319
rs1553552319
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166056429 frameshift variant -/C delins 0.700 0
dbSNP: rs1553561023
rs1553561023
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073620 start lost A/G snv 0.700 0
dbSNP: rs1554769099
rs1554769099
SPTAN1
1 1.000 0.040 9 128632483 missense variant A/G snv 0.700 0
dbSNP: rs1554776948
rs1554776948
STXBP1
1 1.000 0.040 9 127661101 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1554965669
rs1554965669
SLC25A22
2 0.925 0.040 11 792888 stop gained G/A snv 0.700 0
dbSNP: rs1555230909
rs1555230909
SCN8A
1 1.000 0.040 12 51806326 missense variant A/G snv 0.700 0
dbSNP: rs1555546796
rs1555546796
ARHGEF15
1 1.000 0.040 17 8313029 inframe deletion GTCCCCCGTCGGGCC/- del 0.700 0
dbSNP: rs1555850590
rs1555850590
KCNQ2
1 1.000 0.040 20 63406985 frameshift variant G/- delins 0.700 0
dbSNP: rs1555869758
rs1555869758
KCNQ2
3 1.000 0.040 20 63438654 missense variant T/C snv 0.700 0
dbSNP: rs1555873656
rs1555873656
KCNQ2
1 1.000 0.040 20 63444662 frameshift variant G/- del 0.700 0
dbSNP: rs1555873823
rs1555873823
KCNQ2
1 1.000 0.040 20 63444834 missense variant T/C snv 0.700 0
dbSNP: rs1555873981
rs1555873981
KCNQ2 ; KCNQ2-AS1
1 1.000 0.040 20 63445313 frameshift variant C/- delins 0.700 0
dbSNP: rs1555951141
rs1555951141
CDKL5
1 1.000 0.040 X 18595354 frameshift variant G/TC delins 0.700 0
dbSNP: rs398123588
rs398123588
SCN1A ; SCN1A-AS1
5 0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs587777310
rs587777310
STXBP1
2 0.925 0.040 9 127668132 missense variant G/A snv 0.700 0