Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 8
rs80358263
NPC2
0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06 7
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 4
rs28942108
NPC1
0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 3
rs80358254
NPC1
0.882 0.160 18 23538609 missense variant C/A;G;T snv 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05 3
rs80358261
NPC2
0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 3
rs80358267
ISCA2 ; NPC2
0.925 0.160 14 74493248 frameshift variant C/- del 2
rs139751448
NPC1
0.925 0.160 18 23556358 missense variant C/T snv 3.6E-05 7.0E-06 2
rs143124972
NPC1
0.925 0.160 18 23539447 missense variant G/A snv 1.6E-05 7.0E-06 2
rs28942104
NPC1
0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05 2
rs369368181
NPC1
0.925 0.160 18 23551653 missense variant G/A snv 1.6E-05 7.0E-06 2
rs372030650
NPC1
0.925 0.160 18 23539985 missense variant T/A snv 4.8E-05 1.1E-04 2
rs55724504
NPC1
0.925 0.280 18 23534476 synonymous variant C/A;T snv 2.6E-03; 1.3E-04 2
rs753768576
NPC1
0.925 0.160 18 23539826 missense variant G/A snv 2.4E-05 2
rs756815030
NPC1
0.925 0.160 18 23538610 frameshift variant CT/- del 7.0E-06 2
rs758902805
NPC1
0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06 2
rs759075595
NPC1
0.925 0.160 18 23568933 frameshift variant CT/- delins 8.0E-06 2
rs774943545
NPC1
0.925 0.160 18 23533364 frameshift variant GAGT/- delins 3.2E-05 2.1E-05 2
rs780592540
NPC1
0.925 0.160 18 23539936 stop gained G/A;C snv 4.0E-06; 8.0E-06 2
rs80358253
NPC1
0.925 0.160 18 23541355 missense variant T/G snv 8.0E-06 2
rs80358258
NPC1
0.925 0.160 18 23536758 missense variant C/T snv 8.0E-06 2
rs11694
NPC2
0.925 0.160 14 74484579 missense variant A/G snv 2