Disease: Stereotypic Movement Disorder
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 16
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7