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: rs796053228
rs796053228
SCN8A
4 0.882 0.160 12 51807100 missense variant C/G;T snv 0.020 1.000 2 2019 2020
dbSNP: rs797044548
rs797044548
TBC1D24
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1057516032
rs1057516032
ATP1A3
4 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518443
rs1057518443
CUL4B
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519463
rs1057519463
HEXA
6 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057519467
rs1057519467
HEXA
5 0.925 0.160 15 72345540 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519565
rs1057519565
DEAF1
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057524792
rs1057524792
LIAS
3 1.000 0.040 4 39467617 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1064793923
rs1064793923
SCN8A
1 12 51699581 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1085307920
rs1085307920
KCNQ2
1 20 63444805 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs10974620
rs10974620
SLC1A1 ; SPATA6L
1 9 4557296 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11001109
rs11001109
ADK
1 10 74683339 intron variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1131692040
rs1131692040
RPL10 ; SNORA70
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs118192250
rs118192250
KCNQ3
5 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs121909674
rs121909674
GABRG2
8 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs121918815
rs121918815
SCN1A ; SCN1A-AS1 ; LOC102724058
2 1.000 0.080 2 165991679 missense variant C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs122453114
rs122453114
SLC6A8
2 1.000 0.120 X 153693586 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1287121256
rs1287121256
CAMK2A
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs132630298
rs132630298
PHF6
2 1.000 0.200 X 134393556 missense variant G/T snv 0.010 1.000 1 2018 2018