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: rs1131691712
rs1131691712
CACNA1A
1 19 13286952 frameshift variant -/A delins 4.2E-06 0.700 1.000 46 1988 2017
dbSNP: rs1554776842
rs1554776842
STXBP1
1 9 127660080 frameshift variant C/- delins 0.700 1.000 27 1998 2016
dbSNP: rs200891944
rs200891944
ATP1A3
1 19 41981976 missense variant C/A;T snv 0.700 1.000 27 1988 2017
dbSNP: rs767199598
rs767199598
STXBP1
1 9 127682451 stop gained C/A;T snv 0.700 1.000 27 1998 2016
dbSNP: rs1554216308
rs1554216308
HDAC3
1 5 141626221 missense variant T/C snv 0.700 1.000 25 1999 2016
dbSNP: rs1555764170
rs1555764170
TCF4
1 18 55254579 frameshift variant CC/- del 0.700 1.000 22 2007 2017
dbSNP: rs1413339367
rs1413339367
SLC2A1
1 1 42930661 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1554086554
rs1554086554
KCNN2
1 5 114404815 inframe deletion TAT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs121917995
rs121917995
SCN1A ; SCN1A-AS1 ; LOC102724058
1 2 165992368 missense variant C/T snv 0.700 1.000 19 1997 2014
dbSNP: rs1553540213
rs1553540213
SCN1A ; SCN1A-AS1 ; LOC102724058
1 2 166036185 frameshift variant C/- del 0.700 1.000 19 1997 2014
dbSNP: rs1555911098
rs1555911098
EP300
1 22 41168719 splice acceptor variant A/G snv 0.700 1.000 19 1963 2016
dbSNP: rs1555302735
rs1555302735
COL4A1
1 13 110173899 splice donor variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1553637932
rs1553637932
KIF1A
1 2 240783109 missense variant C/T snv 0.700 1.000 15 2011 2018
dbSNP: rs1553638309
rs1553638309
KIF1A
1 2 240785068 missense variant C/T snv 0.700 1.000 15 2011 2018
dbSNP: rs149474131
rs149474131
SPG7
1 16 89513008 stop gained C/A;G;T snv 4.0E-06; 5.7E-05; 4.9E-05 0.700 1.000 13 2012 2017
dbSNP: rs1553245178
rs1553245178
ATP1A2
1 1 160130548 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
1 16 8797935 missense variant C/G snv 1.7E-05 1.4E-05 0.700 1.000 12 1997 2017
dbSNP: rs1554059320
rs1554059320
RICTOR
1 5 38946521 frameshift variant T/- delins 0.700 1.000 11 1976 2015
dbSNP: rs1554380093
rs1554380093
AP4M1
1 7 100105098 missense variant G/A snv 0.700 1.000 11 2009 2015
dbSNP: rs779340209
rs779340209
ADNP
1 20 50892501 stop gained G/C snv 0.700 1.000 11 2001 2017
dbSNP: rs796053403
rs796053403
TBC1D24
1 16 2496622 frameshift variant C/- delins 0.700 1.000 11 2014 2017
dbSNP: rs1554397774
rs1554397774
KCTD7
1 7 66633273 splice acceptor variant A/G snv 0.700 1.000 10 2005 2016
dbSNP: rs1556213001
rs1556213001
CUL4B
1 X 120544122 stop gained C/A snv 0.700 1.000 10 2000 2017
dbSNP: rs1557084549
rs1557084549
WDR45
1 X 49078050 stop gained G/A snv 0.700 1.000 10 2010 2017
dbSNP: rs201296399
rs201296399
KCTD7
1 7 66633320 missense variant A/G snv 5.6E-05 4.9E-05 0.700 1.000 10 2005 2016