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: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs1555226081
rs1555226081
SCN8A
2 1.000 12 51768899 missense variant C/T snv 0.700 1.000 26 1995 2017
dbSNP: rs1555230924
rs1555230924
SCN8A
2 12 51806351 missense variant C/A snv 0.700 1.000 26 1995 2017
dbSNP: rs587780586
rs587780586
SCN8A
4 0.882 0.160 12 51765675 missense variant G/A snv 0.700 1.000 26 1995 2017
dbSNP: rs797044885
rs797044885
ZBTB18
4 0.925 1 244055156 missense variant A/G snv 0.700 1.000 26 1997 2017
dbSNP: rs797044953
rs797044953
SETD5
3 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018
dbSNP: rs1553352926
rs1553352926
BCL11A
3 0.925 2 60545969 splice donor variant A/G snv 0.700 1.000 25 2000 2018
dbSNP: rs1553521389
rs1553521389
CUL3
3 1.000 2 224503679 frameshift variant AG/- delins 0.700 1.000 25 1986 2016
dbSNP: rs1554770046
rs1554770046
GRIN1
1 9 137162184 missense variant A/C snv 0.700 1.000 25 1983 2017
dbSNP: rs1554770667
rs1554770667
GRIN1
4 0.882 9 137163845 missense variant C/T snv 0.700 1.000 25 1983 2017
dbSNP: rs587783685
rs587783685
KMT2D
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690
KMT2D
3 0.925 0.120 12 49031255 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: rs797044884
rs797044884
CLTC ; PTRH2
4 0.925 17 59677123 frameshift variant -/GA delins 0.700 1.000 23 1976 2017
dbSNP: rs1057521070
rs1057521070
TCF4
3 0.925 0.200 18 55228999 missense variant C/T snv 0.700 1.000 22 2007 2017
dbSNP: rs1064796453
rs1064796453
CTNNB1
2 3 41235799 stop gained C/A;T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553632361
rs1553632361
CTNNB1
1 3 41236468 frameshift variant AG/- 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: rs1555036394
rs1555036394
KMT2A
2 1.000 11 118473352 frameshift variant A/- del 0.700 1.000 22 1989 2017
dbSNP: rs1555036436
rs1555036436
KMT2A
2 1.000 11 118473420 frameshift variant C/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555039242
rs1555039242
KMT2A
2 1.000 11 118481728 frameshift variant GA/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555046428
rs1555046428
KMT2A
2 1.000 11 118503078 frameshift variant -/CAGAT delins 0.700 1.000 22 1989 2017