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: 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: rs550423482
rs550423482
PNPO
6 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.710 1.000 1 2014 2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 44 2001 2018
dbSNP: rs104894718
rs104894718
SCN1B
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs121918054
rs121918054
POLG
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 9 2006 2015
dbSNP: rs28931591
rs28931591
CHRNA4
4 0.882 0.160 20 63350560 missense variant G/A snv 0.700 1.000 9 1999 2013
dbSNP: rs368435864
rs368435864
POLG
2 1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.700 1.000 9 2006 2013
dbSNP: rs121912707
rs121912707
ALDH7A1
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.700 1.000 8 2006 2017
dbSNP: rs113994096
rs113994096
POLG
8 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 7 2003 2013
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.700 1.000 6 2007 2019
dbSNP: rs118192226
rs118192226
KCNQ2
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 1.000 6 1984 2015
dbSNP: rs1568940442
rs1568940442
KCNQ2
1 20 63444765 missense variant G/A snv 0.700 1.000 5 2007 2015
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: rs201477273
rs201477273
POLG
5 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 4 2007 2013
dbSNP: rs750428882
rs750428882
TPP1
2 1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2009 2013
dbSNP: rs113994094
rs113994094
POLG
6 0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 3 2011 2015
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: rs267607235
rs267607235
MFSD8
2 1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 3 2009 2012
dbSNP: rs387906309
rs387906309
HEXA
10 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
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