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: rs1043614377
rs1043614377
CNNM2
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs104894629
rs104894629
PNPO
2 0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1060499553
rs1060499553
GABRA1
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121917750
rs121917750
SCN2A
2 0.925 0.080 2 165386881 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
3 0.882 0.200 MT 3946 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs202151337
rs202151337
SCN8A
4 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs375108991
rs375108991
PIGO
1 1.000 0.040 9 35092599 stop gained G/A;C snv 2.8E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs375818497
rs375818497
PRRT2 ; LOC112268170
1 1.000 0.040 16 29813554 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906685
rs387906685
SCN2A
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs397514737
rs397514737
GABRG2
4 0.882 0.080 5 162149153 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs397518447
rs397518447
GRIN2A
2 0.925 0.040 16 9829585 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs587777057
rs587777057
GNAO1
8 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs587777164
rs587777164
KCNH5
3 0.882 0.080 14 62950522 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs727503940
rs727503940
GABRA1
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs727503973
rs727503973
KCNQ2
2 0.925 0.040 20 63439665 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs74315392
rs74315392
KCNQ2
4 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs764159748
rs764159748
PIGO
1 1.000 0.040 9 35092602 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs766910280
rs766910280
SCN1B
3 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs769074339
rs769074339
PIGV
1 1.000 0.040 1 26797650 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs796052491
rs796052491
GABRA1
4 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs796052493
rs796052493
GABRA1
4 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016