Disease: Movement Disorders
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 4
rs104894639
SGSH
0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05 3
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
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5
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
rs1437184398
GPT2
0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 2
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs148234606
SLC52A2
0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
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