Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 5
rs137853317
FLNA
0.827 0.120 X 154367878 missense variant G/A snv 5
rs786205186
FLNA
0.827 0.120 X 154362417 splice donor variant C/G;T snv 5
rs797045044
FLNA
0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 5
rs1060500716
FLNA
0.851 0.120 X 154360127 missense variant G/A snv 4
rs1060500718
FLNA
0.851 0.120 X 154353329 frameshift variant AG/- del 4
rs1557176315
FLNA
0.851 0.120 X 154353914 splice donor variant C/G snv 4
rs1557177086
FLNA
0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins 4
rs1557177279
FLNA
0.851 0.120 X 154358440 splice donor variant TTACCTCC/- delins 4
rs1557177485
FLNA
0.851 0.120 X 154359407 splice acceptor variant C/A snv 4
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv 4
rs1557177636
FLNA
0.851 0.120 X 154359897 frameshift variant G/- delins 4
rs1557177738
FLNA
0.851 0.120 X 154360266 stop gained C/A snv 4
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
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins 4
rs1569551502
FLNA
0.851 0.120 X 154353958 frameshift variant G/- del 4
rs1569551861
FLNA
0.851 0.120 X 154367685 stop gained G/A snv 4
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv 2
rs1557175424
FLNA
0.925 0.080 X 154350030 splice donor variant C/T snv 2
rs398122812
LOC105373386 ; FLNA
0.925 0.080 X 154348897 stop gained C/T snv 2
rs1057516198
FLNA
1.000 0.080 X 154359008 stop gained G/A snv 1
rs1060500717
FLNA
1.000 0.080 X 154352226 stop gained G/A;C snv 1
rs112363874
FLNA
1.000 0.080 X 154352449 splice acceptor variant T/A;G snv 1
rs137853311
FLNA
1.000 0.080 X 154364582 missense variant G/A snv 1.1E-05 1