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: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
4 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
dbSNP: rs1382415023
rs1382415023
SON
3 1.000 21 33554945 frameshift variant GAAA/- delins 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
4 1.000 21 33554005 frameshift variant ACTC/- del 0.700 1.000 28 1988 2016
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: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs1555230924
rs1555230924
SCN8A
2 12 51806351 missense variant C/A snv 0.700 1.000 26 1995 2017
dbSNP: rs875989786
rs875989786
ZBTB18
2 1.000 1 244054957 stop gained C/T snv 0.700 1.000 26 1997 2017
dbSNP: rs1554216308
rs1554216308
HDAC3
1 5 141626221 missense variant T/C snv 0.700 1.000 25 1999 2016
dbSNP: rs797045047
rs797045047
GRIN1
3 1.000 9 137162510 missense variant G/A;C snv 0.700 1.000 25 1983 2017
dbSNP: rs1553749681
rs1553749681
DOCK3
4 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
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: rs1555046615
rs1555046615
KMT2A
3 1.000 11 118503389 frameshift variant A/- del 0.700 1.000 22 1989 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