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: rs28931591
rs28931591
CHRNA4
4 0.882 0.160 20 63350560 missense variant G/A snv 0.700 1.000 9 1999 2013
dbSNP: rs74315390
rs74315390
KCNQ2
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.710 1.000 9 1993 2016
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 7 2000 2019
dbSNP: rs1568940442
rs1568940442
KCNQ2
1 20 63444765 missense variant G/A snv 0.700 1.000 5 2007 2015
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.040 1.000 4 2008 2019
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs113994198
rs113994198
PAFAH1B1
4 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
dbSNP: rs1555850151
rs1555850151
KCNQ2
2 1.000 20 63406659 frameshift variant -/GCCCA delins 0.700 1.000 3 2003 2014
dbSNP: rs1564367605
rs1564367605
KCNT1
1 9 135768856 missense variant G/A snv 0.700 1.000 3 2015 2017
dbSNP: rs397507476
rs397507476
BRAF
4 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
dbSNP: rs397514737
rs397514737
GABRG2
4 0.882 0.080 5 162149153 missense variant G/A snv 0.700 1.000 3 2013 2015
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
3 0.925 20 63413526 missense variant C/A;T snv 0.700 1.000 3 2013 2015
dbSNP: rs864309661
rs864309661
WDR45
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
dbSNP: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
6 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
dbSNP: rs202151337
rs202151337
SCN8A
4 0.925 0.160 12 51806788 missense variant A/G snv 0.020 1.000 2 2015 2017
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2018 2020
dbSNP: rs398122968
rs398122968
TBC1D24
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs587777219
rs587777219
KCNQ2
3 0.925 20 63442428 missense variant G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs587784440
rs587784440
SPTAN1
3 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 1.000 2 2013 2015