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: rs1555869758
rs1555869758
KCNQ2
3 1.000 0.040 20 63438654 missense variant T/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: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs875989786
rs875989786
ZBTB18
2 1.000 1 244054957 stop gained C/T snv 0.700 1.000 26 1997 2017
dbSNP: rs797045047
rs797045047
GRIN1
3 1.000 9 137162510 missense variant G/A;C snv 0.700 1.000 25 1983 2017
dbSNP: rs1555046615
rs1555046615
KMT2A
3 1.000 11 118503389 frameshift variant A/- del 0.700 1.000 22 1989 2017
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553317028
rs1553317028
SPAST
2 1.000 2 32128440 inframe deletion CTT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs1555254256
rs1555254256
SACS
3 1.000 13 23354906 stop gained C/T snv 0.700 1.000 21 1993 2016
dbSNP: rs1557082399
rs1557082399
ATRX
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs797044850
rs797044850
SPAST
3 1.000 0.080 2 32127017 missense variant A/G snv 0.700 1.000 21 1999 2016
dbSNP: rs1554236054
rs1554236054
ARID1B
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1554599036
rs1554599036
CHD7
4 1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 0.700 1.000 20 1999 2016
dbSNP: rs587777429
rs587777429
TUBB4A
3 1.000 0.120 19 6496032 missense variant C/A;T snv 0.700 1.000 20 2002 2017
dbSNP: rs886041166
rs886041166
CHD7
3 1.000 8 60742366 stop gained C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs1064795935
rs1064795935
COL4A1
3 1.000 13 110181389 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1554122252
rs1554122252
SYNGAP1
3 1.000 6 33443341 frameshift variant CT/- delins 0.700 1.000 18 2004 2017
dbSNP: rs1554129039
rs1554129039
PURA
3 1.000 5 140114334 frameshift variant A/- del 0.700 1.000 17 1991 2018
dbSNP: rs1131691608
rs1131691608
DDX3X
2 1.000 X 41346503 splice acceptor variant A/G snv 0.700 1.000 16 1989 2017
dbSNP: rs1555243099
rs1555243099
MED13L
2 1.000 12 115982526 missense variant A/T snv 0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853
MED13L
2 1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 0.700 1.000 16 1971 2018
dbSNP: rs1555952710
rs1555952710
DDX3X
2 1.000 X 41341617 splice donor variant G/C snv 0.700 1.000 16 1989 2017
dbSNP: rs118161496
rs118161496
NUBPL
2 1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03 0.700 1.000 14 1999 2013
dbSNP: rs1553259529
rs1553259529
MPZ
3 1.000 1 161306152 frameshift variant -/C delins 0.700 1.000 14 1998 2015