Disease: Movement Disorders
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv 2
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins 3
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1553212545
POGZ
1.000 1 151406046 stop gained G/A snv 3
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1553262429
GJC2
1.000 1 228157838 stop gained G/A snv 2
rs1553262430
GJC2
1.000 1 228157841 missense variant T/C snv 2
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins 3
rs1553317028
SPAST
1.000 2 32128440 inframe deletion CTT/- delins 2
rs1553417206
EXOC6B
1.000 2 72465341 splice acceptor variant T/C snv 2
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1554122252
SYNGAP1
1.000 6 33443341 frameshift variant CT/- delins 3
rs1554129039
PURA
1.000 5 140114334 frameshift variant A/- del 3
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1554260888
EYA4
1.000 6 133456594 frameshift variant A/- del 2
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554629007
SMARCA2
1.000 9 2115958 missense variant T/G snv 2
rs1554768709
SURF2 ; SURF1
1.000 9 133354824 missense variant C/G snv 2
rs1554794342
ERCC6
1.000 10 49530769 frameshift variant CTGCTGG/- del 2