Disease: Periventricular Heterotopia, X-Linked
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786205186
FLNA
0.827 0.120 X 154362417 splice donor variant C/G;T snv 5
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv 4
rs1557179325
FLNA
0.925 0.080 X 154366562 splice region variant C/T snv 4
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv 2
rs398122812
LOC105373386 ; FLNA
0.925 0.080 X 154348897 stop gained C/T snv 2