Source: BEFREE ×
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: rs28934906
rs28934906
MECP2
8 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 1 2000 2019
dbSNP: rs550423482
rs550423482
PNPO
2 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.710 1.000 1 2014 2014
dbSNP: rs74315390
rs74315390
KCNQ2
6 0.790 0.120 20 63439609 missense variant C/G;T snv 0.710 1.000 1 1993 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2006 2014
dbSNP: rs121908225
rs121908225
CACNA1A
11 0.790 0.120 19 13365448 missense variant G/A snv 0.040 1.000 4 2008 2019
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
7 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.040 1.000 4 2011 2019
dbSNP: rs211037
rs211037
GABRG2
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.040 0.750 4 2010 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2011 2020
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.020 1.000 2 2005 2013
dbSNP: rs121913500
rs121913500
IDH1
83 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2014 2017
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
12 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs1392120633
rs1392120633
SCN8A
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs202151337
rs202151337
SCN8A
3 0.925 0.160 12 51806788 missense variant A/G snv 0.020 1.000 2 2015 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2018 2020
dbSNP: rs398122403
rs398122403
SYNJ1
10 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2013 2015
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: rs796053228
rs796053228
SCN8A
2 0.882 0.160 12 51807100 missense variant C/G;T snv 0.020 1.000 2 2019 2020
dbSNP: rs1006737
rs1006737
CACNA1C
25 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1024611
rs1024611 		59 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1057518443
rs1057518443
CUL4B
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
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