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: rs1156566314
rs1156566314
SACS
1 1.000 0.080 13 23332937 stop gained C/A;T snv 0.700 0
dbSNP: rs200440467
rs200440467
AP4S1
2 0.925 0.080 14 31072968 stop gained C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs1553262438
rs1553262438
GJC2
1 1.000 0.080 1 228157899 stop gained C/G snv 0.700 1.000 2 2008 2010
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: rs754944359
rs754944359
AP4S1
1 1.000 0.080 14 31066239 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs794727501
rs794727501
CYP7B1
1 1.000 0.080 8 64616016 stop gained C/G;T snv 0.700 0
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: 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: rs121434444
rs121434444
KIF5A
4 0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06 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: rs144553163
rs144553163
MAG
3 0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03 0.010 1.000 1 2019 2019
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: rs370828455
rs370828455
ZFYVE26
2 0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 1 1981 1981
dbSNP: rs387906710
rs387906710
UBQLN2
3 0.882 0.120 X 56565362 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs797045050
rs797045050
KIF1A
6 0.807 0.120 2 240797715 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs864622269
rs864622269
ATL1
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1057518760
rs1057518760
KIF1A
4 1.000 0.080 2 240788182 missense variant C/T snv 0.700 0
dbSNP: rs119476046
rs119476046
ATL1
5 0.827 0.240 14 50613343 missense variant C/T snv 0.700 0
dbSNP: rs121908611
rs121908611
CYP7B1
2 0.925 0.120 8 64596913 missense variant C/T snv 2.8E-05 6.3E-05 0.700 0
dbSNP: rs1557091278
rs1557091278
L1CAM
1 1.000 0.080 X 153867355 splice donor variant C/T snv 0.700 0
dbSNP: rs869312880
rs869312880
REEP1
5 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0
dbSNP: rs886039405
rs886039405
L1CAM
1 1.000 0.080 X 153870246 splice region variant C/T snv 0.700 0
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0