Disease: Movement Disorders
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 4
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs397517076
CBL
0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 3
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv 3
rs386834124
CLN8
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 4
rs761621368
CLN8
1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05 3
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06 3
rs545986367
CSTB
0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 4
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv 3
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv 2
rs1555952710
DDX3X
1.000 X 41341617 splice donor variant G/C snv 2
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3