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: 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: 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: rs1555850151
rs1555850151
KCNQ2
2 1.000 20 63406659 frameshift variant -/GCCCA delins 0.700 1.000 3 2003 2014
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: rs864309661
rs864309661
WDR45
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
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: rs778573169
rs778573169
POLG
2 1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05 0.700 1.000 2 2011 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: rs1057524792
rs1057524792
LIAS
3 1.000 0.040 4 39467617 missense variant T/G snv 0.010 1.000 1 2018 2018
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: rs132630298
rs132630298
PHF6
2 1.000 0.200 X 134393556 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs150594290
rs150594290
ALPL
3 1.000 0.080 1 21575894 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1554434435
rs1554434435
CAMK2B
4 1.000 7 44284206 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs200396597
rs200396597
APP
2 1.000 0.080 21 25881743 missense variant C/T snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2279020
rs2279020
GABRA1
2 1.000 0.040 5 161895883 non coding transcript exon variant G/A snv 0.62 0.63 0.010 1.000 1 2010 2010
dbSNP: rs2351299
rs2351299
GABRB1
2 1.000 0.040 4 47141348 intron variant G/T snv 0.19 0.010 < 0.001 1 2006 2006
dbSNP: rs28937874
rs28937874
LGI1
2 1.000 0.120 10 93797277 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs370243877
rs370243877
PNPO ; SP2-AS1
2 1.000 0.160 17 47941773 missense variant A/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs371753097
rs371753097
PIPOX ; SEZ6 ; LOC105371716
2 1.000 0.080 17 28959400 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs3832300
rs3832300
GABRB1
2 1.000 0.040 4 47426318 3 prime UTR variant -/T delins 5.1E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs397515327
rs397515327
DPAGT1 ; LOC107984397
2 1.000 0.080 11 119100785 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4482737
rs4482737
GABRB1
2 1.000 0.040 4 47320173 missense variant T/C;G snv 0.99; 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs4869682
rs4869682
SLC1A3
2 1.000 0.080 5 36656616 intron variant T/G snv 0.50 0.010 1.000 1 2019 2019