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: 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: rs878854991
rs878854991
SPAST
5 0.882 0.080 2 32141906 missense variant G/A snv 0.700 1.000 21 1999 2016
dbSNP: rs1555050165
rs1555050165
GRIA4
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 1.000 20 1992 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: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.700 1.000 20 1993 2018
dbSNP: rs886041166
rs886041166
CHD7
3 1.000 8 60742366 stop gained C/T snv 0.700 1.000 20 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: 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: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 19 1993 2016
dbSNP: rs1064795935
rs1064795935
COL4A1
3 1.000 13 110181389 missense variant C/T snv 0.700 1.000 18 1984 2015
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
dbSNP: rs1554129113
rs1554129113
PURA
2 5 140114873 missense variant T/C snv 0.700 1.000 17 1991 2018
dbSNP: rs1057519430
rs1057519430
DDX3X
5 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
dbSNP: rs1131691608
rs1131691608
DDX3X
2 1.000 X 41346503 splice acceptor variant A/G snv 0.700 1.000 16 1989 2017
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 1.000 16 1994 2013
dbSNP: rs1554100923
rs1554100923
GABRG2
2 5 162149212 missense variant T/C snv 0.700 1.000 16 2001 2018
dbSNP: rs1555243099
rs1555243099
MED13L
2 1.000 12 115982526 missense variant A/T snv 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: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 1.000 16 1995 2017
dbSNP: rs1553637932
rs1553637932
KIF1A
1 2 240783109 missense variant C/T snv 0.700 1.000 15 2011 2018
dbSNP: rs1553638309
rs1553638309
KIF1A
1 2 240785068 missense variant C/T snv 0.700 1.000 15 2011 2018
dbSNP: rs879253888
rs879253888
KIF1A
5 0.851 0.120 2 240783777 missense variant G/A snv 0.700 1.000 15 2011 2018