Disease: Movement Disorders
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv 2
rs1437184398
GPT2
0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 2
rs1553262429
GJC2
1.000 1 228157838 stop gained G/A snv 2
rs1553262430
GJC2
1.000 1 228157841 missense variant T/C snv 2
rs1553317028
SPAST
1.000 2 32128440 inframe deletion CTT/- delins 2
rs1553417206
EXOC6B
1.000 2 72465341 splice acceptor variant T/C snv 2
rs1554260888
EYA4
1.000 6 133456594 frameshift variant A/- del 2
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
rs1555243099
MED13L
1.000 12 115982526 missense variant A/T snv 2
rs1555247853
MED13L
1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 2
rs1555391286
UBE3A ; SNHG14
1.000 15 25356868 frameshift variant T/- delins 2
rs1555952710
DDX3X
1.000 X 41341617 splice donor variant G/C snv 2
rs1556837420
MIR6895 ; KDM5C
1.000 X 53196897 stop gained G/A snv 2
rs782061187
SURF1
1.000 9 133351945 frameshift variant -/A delins 4.0E-06 2
rs104894639
SGSH
0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05 3
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
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
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins 3