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: rs587776888
rs587776888
GJC2
2 0.925 0.160 1 228149860 upstream gene variant A/G snv 0.700 1.000 5 2010 2014
dbSNP: rs1555177629
rs1555177629
KIF5A
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 4 2009 2015
dbSNP: rs137852520
rs137852520
L1CAM
4 0.851 0.200 X 153868866 missense variant C/T snv 0.700 1.000 3 1994 2002
dbSNP: rs1558119445
rs1558119445
GJC2
1 1.000 0.080 1 228157841 frameshift variant -/AC delins 0.700 1.000 3 2004 2010
dbSNP: rs1259615333
rs1259615333
SACS
2 0.925 0.160 13 23340970 frameshift variant GTCT/- delins 7.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs1553262438
rs1553262438
GJC2
1 1.000 0.080 1 228157899 stop gained C/G snv 0.700 1.000 2 2008 2010
dbSNP: rs1566058677
rs1566058677
SACS
1 1.000 0.080 13 23332943 frameshift variant G/- del 0.700 1.000 2 2010 2011
dbSNP: rs1569285562
rs1569285562
KDM5C
1 1.000 0.080 X 53224889 start lost T/C snv 0.700 1.000 2 2012 2015
dbSNP: rs773182375
rs773182375
SACS
1 1.000 0.080 13 23336670 frameshift variant AA/- del 1.4E-05 0.700 1.000 2 2010 2011
dbSNP: rs863224494
rs863224494
L1CAM
1 1.000 0.080 X 153867800 stop gained T/A snv 0.700 1.000 2 2000 2001
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017
dbSNP: rs1160357920
rs1160357920
SACS
2 0.925 0.160 13 23339132 missense variant C/T snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs121434441
rs121434441
KIF5A
3 0.882 0.240 12 57569015 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1331505548
rs1331505548
KIF5C
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1364050643
rs1364050643
REEP1
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs137852524
rs137852524
L1CAM
3 0.882 0.200 X 153869818 missense variant C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1557090220
rs1557090220
L1CAM
1 1.000 0.080 X 153864820 splice donor variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1566055368
rs1566055368
SACS
1 1.000 0.080 13 23330968 stop gained A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1569544908
rs1569544908
L1CAM
1 1.000 0.080 X 153872147 splice region variant C/T snv 0.700 1.000 1 1994 1994
dbSNP: rs387906710
rs387906710
UBQLN2
3 0.882 0.120 X 56565362 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs797045050
rs797045050
KIF1A
6 0.807 0.120 2 240797715 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1006060877
rs1006060877
SACS
1 1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05 0.700 0
dbSNP: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 0
dbSNP: rs1057518697
rs1057518697
KDM5C
2 0.925 0.120 X 53210820 missense variant G/A snv 0.700 0