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: rs781139634
rs781139634
DNMT3A
2 2 25235768 stop gained G/A snv 7.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs1555869758
rs1555869758
KCNQ2
3 1.000 0.040 20 63438654 missense variant T/C snv 0.700 1.000 29 1980 2017
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: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.700 1.000 28 1991 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
dbSNP: rs200891944
rs200891944
ATP1A3
1 19 41981976 missense variant C/A;T snv 0.700 1.000 27 1988 2017
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/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: rs796053361
rs796053361
STXBP1
4 0.925 0.040 9 127668160 missense variant G/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: rs869312966
rs869312966
SCN8A
7 0.827 0.120 12 51806345 missense variant G/T 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: rs587783685
rs587783685
KMT2D
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
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: rs775104326
rs775104326
CTNNB1
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
dbSNP: rs864309483
rs864309483
ADCY5
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 1.000 22 1992 2017
dbSNP: rs1057521083
rs1057521083
SATB2
4 0.925 0.200 2 199348709 missense variant G/A snv 0.700 1.000 21 1989 2017
dbSNP: rs1413339367
rs1413339367
SLC2A1
1 1 42930661 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1555254256
rs1555254256
SACS
3 1.000 13 23354906 stop gained C/T snv 0.700 1.000 21 1993 2016