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: 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: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1057518697
rs1057518697
KDM5C
2 0.925 0.120 X 53210820 missense variant G/A snv 0.700 0
dbSNP: rs1057518760
rs1057518760
KIF1A
4 1.000 0.080 2 240788182 missense 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
dbSNP: rs1057518880
rs1057518880
SPAST
1 1.000 0.080 2 32126966 frameshift variant G/- del 0.700 0
dbSNP: rs1060499939
rs1060499939
SPAST
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs1060502224
rs1060502224
CYP7B1
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs1060503431
rs1060503431
SACS
1 1.000 0.080 13 23334312 frameshift variant ACAA/- delins 0.700 0
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: rs1156566314
rs1156566314
SACS
1 1.000 0.080 13 23332937 stop gained C/A;T snv 0.700 0
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: rs116171274
rs116171274
CYP7B1
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.700 1.000 5 2009 2014
dbSNP: rs119476046
rs119476046
ATL1
5 0.827 0.240 14 50613343 missense variant C/T snv 0.700 0
dbSNP: rs121434441
rs121434441
KIF5A
3 0.882 0.240 12 57569015 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs121434443
rs121434443
KIF5A
2 0.925 0.120 12 57569263 missense variant A/G snv 0.700 0
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: rs121908345
rs121908345
MLC1
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
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: rs121908613
rs121908613
CYP7B1
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 0
dbSNP: rs121918262
rs121918262
REEP1
3 0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 0.700 0
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: 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