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: rs2601828
rs2601828
ADCY9
1 1.000 0.040 16 4053870 intron variant T/C snv 0.77 0.800 1.000 1 2010 2010
dbSNP: rs346291
rs346291 		1 1.000 0.040 6 79855119 non coding transcript exon variant C/T snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs12987787
rs12987787
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166001881 intron variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1318322
rs1318322
LOC105377977
1 1.000 0.040 6 121013624 intergenic variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1991545
rs1991545
SLC33A1
1 1.000 0.040 3 155834522 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs2212656
rs2212656
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166144333 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9341799
rs9341799 		1 1.000 0.040 6 79854802 non coding transcript exon variant T/C snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs1057519525
rs1057519525
SCN2A
1 1.000 0.040 2 165308760 missense variant T/G snv 0.700 0
dbSNP: rs1057519541
rs1057519541
CDKL5
1 1.000 0.040 X 18628515 stop gained C/T snv 0.700 0
dbSNP: rs1057519543
rs1057519543
MECP2
1 1.000 0.040 X 154030913 missense variant C/A snv 0.700 0
dbSNP: rs587780455
rs587780455
SCN8A
7 0.827 0.160 12 51807116 missense variant A/G snv 0.700 0
dbSNP: rs587784440
rs587784440
SPTAN1
3 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 0
dbSNP: rs730882225
rs730882225
NID1
3 0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs797044873
rs797044873
SNAP25 ; SNAP25-AS1
4 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs121917993
rs121917993
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.851 0.040 2 165994212 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs397514679
rs397514679
SYN1
9 0.790 0.200 X 47574321 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs672601376
rs672601376
GRIN2B ; LOC105369668
3 0.925 0.040 12 13608760 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs672601378
rs672601378
GRIN2B ; LOC105369668
4 0.882 0.040 12 13615149 missense variant C/T snv 0.010 1.000 1 2014 2014