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: rs781139634
rs781139634
DNMT3A
2 2 25235768 stop gained G/A snv 7.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs1554776842
rs1554776842
STXBP1
1 9 127660080 frameshift variant C/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
STXBP1
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
STXBP1
2 9 127682485 frameshift variant G/- 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: rs1555230924
rs1555230924
SCN8A
2 12 51806351 missense variant C/A snv 0.700 1.000 26 1995 2017
dbSNP: rs1554216308
rs1554216308
HDAC3
1 5 141626221 missense variant T/C snv 0.700 1.000 25 1999 2016
dbSNP: rs1555605688
rs1555605688
CLTC
2 17 59668852 missense variant C/T snv 0.700 1.000 23 1976 2017
dbSNP: rs1064796453
rs1064796453
CTNNB1
2 3 41235799 stop gained C/A;T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
2 3 41233416 frameshift variant G/- delins 0.700 1.000 22 1991 2017
dbSNP: rs1553732126
rs1553732126
ADCY5
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs1555047506
rs1555047506
KMT2A
2 11 118505003 frameshift variant GTTT/- delins 0.700 1.000 22 1989 2017
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: rs1557137745
rs1557137745
MECP2
2 X 154032272 missense variant C/A snv 0.700 1.000 19 1993 2016
dbSNP: rs1554122458
rs1554122458
SYNGAP1
2 6 33444450 frameshift variant -/A delins 0.700 1.000 18 2004 2017
dbSNP: rs1555302735
rs1555302735
COL4A1
1 13 110173899 splice donor variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1555303010
rs1555303010
COL4A1
2 13 110176450 missense variant C/T snv 0.700 1.000 18 1984 2015