Disease: Movement Disorders
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs782061187
SURF1
1.000 9 133351945 frameshift variant -/A delins 4.0E-06 2
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1554884733
VPS13B
1.000 8 99641974 frameshift variant -/GTCC delins 3
rs1555923822
TCF20
1.000 22 42210236 frameshift variant -/T delins 3
rs1554129039
PURA
1.000 5 140114334 frameshift variant A/- del 3
rs1554260888
EYA4
1.000 6 133456594 frameshift variant A/- del 2
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 4
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv 2
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs1555243099
MED13L
1.000 12 115982526 missense variant A/T snv 2
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs761621368
CLN8
1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05 3
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 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