Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1211175128
REEP1
2 86232648 missense variant G/A snv 1
rs1057518873
SPAST
2 32144990 missense variant C/G;T snv 1
rs63750524
PSEN1
1.000 0.080 14 73198095 missense variant A/C snv 2
rs121918263
REEP1
1.000 0.080 2 86252037 stop gained G/A snv 2
rs121908511
SPAST
1.000 0.080 2 32141905 missense variant C/T snv 2
rs1191863771
APP
0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06 3
rs1085307110
KY ; CEP63 ; EPHB1
0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 3
rs374263073
LAMC2
0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 3
rs63750588
PSEN1
0.925 0.080 14 73173687 missense variant T/A snv 3
rs771744744
SMUG1
0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06 3
rs672601364
KIF1A
0.925 0.040 2 240786513 missense variant C/A snv 4
rs672601365
KIF1A
0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06 4
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv 4
rs1057518874
SPG11
15 44598738 missense variant C/A snv 4
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 5
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv 5
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv 5
rs201689565
SPG11
1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 5
rs886039904
GJC2
0.851 0.200 1 228157836 frameshift variant G/- del 6
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs63750599
PSEN1
0.827 0.160 14 73170963 missense variant T/C snv 7
rs63750802
PSEN1
0.851 0.080 14 73219144 missense variant T/G snv 7
rs63751032
PSEN1
0.851 0.080 14 73219156 missense variant T/A;G snv 7
rs797045164
KIF1A
0.851 0.120 2 240785063 missense variant G/A snv 8