Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs797045050
KIF1A
0.807 0.120 2 240797715 missense variant C/T snv 6
rs104894490
NIPA1
0.827 0.240 15 22812252 missense variant G/A;C snv 5
rs119476046
ATL1
0.827 0.240 14 50613343 missense variant C/T snv 5
rs1364050643
REEP1
0.851 0.240 2 86232711 missense variant G/A snv 5
rs869312880
REEP1
0.882 0.120 2 86232624 splice donor variant C/T snv 5
rs1057518760
KIF1A
1.000 0.080 2 240788182 missense variant C/T snv 4
rs1060499939
SPAST
0.882 0.120 2 32137172 missense variant G/C;T snv 4
rs137852520
L1CAM
0.851 0.200 X 153868866 missense variant C/T snv 4
rs397514513
LOC107986298 ; CYP2U1
0.882 0.080 4 107945426 missense variant A/T snv 4
rs1085307110
KY ; CEP63 ; EPHB1
0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 3
rs116171274
CYP7B1
0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 3
rs121434441
KIF5A
0.882 0.240 12 57569015 missense variant A/G snv 3
rs121908613
CYP7B1
0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 3
rs121918262
REEP1
0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 3
rs137852524
L1CAM
0.882 0.200 X 153869818 missense variant C/T snv 3
rs387906710
UBQLN2
0.882 0.120 X 56565362 missense variant C/T snv 3
rs398123108
ABCD1
0.925 0.200 X 153743211 intron variant G/A;T snv 3
rs772400670
LOC107986298 ; CYP2U1
0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 3
rs1057518697
KDM5C
0.925 0.120 X 53210820 missense variant G/A snv 2
rs121434443
KIF5A
0.925 0.120 12 57569263 missense variant A/G snv 2
rs1331505548
KIF5C
0.925 0.200 2 148949891 missense variant A/G snv 2
rs145766983
SACS
0.925 0.160 13 23336603 stop gained G/A;T snv 1.2E-05; 4.0E-06 2