Disease: Movement Disorders
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs121918243
MMACHC
0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 4
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
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
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs386834124
CLN8
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 4
rs5030869
G6PD
0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 4
rs545986367
CSTB
0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 4
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4