Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853311
rs137853311
FLNA
1 1.000 0.080 X 154364582 missense variant G/A snv 1.1E-05 0.800 1.000 6 2001 2006
dbSNP: rs137853313
rs137853313
FLNA
1 1.000 0.080 X 154371130 missense variant G/C snv 0.800 1.000 6 2001 2006
dbSNP: rs137853315
rs137853315
FLNA
3 0.882 0.200 X 154368081 missense variant G/A snv 0.800 1.000 6 2001 2006
dbSNP: rs28935169
rs28935169
FLNA
1 1.000 0.080 X 154371001 missense variant T/A snv 0.800 1.000 6 2001 2006
dbSNP: rs137853312
rs137853312
FLNA
7 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.700 1.000 3 2005 2006
dbSNP: rs137853317
rs137853317
FLNA
5 0.827 0.120 X 154367878 missense variant G/A snv 0.700 1.000 3 2003 2007
dbSNP: rs1557176315
rs1557176315
FLNA
4 0.851 0.120 X 154353914 splice donor variant C/G snv 0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485
FLNA
4 0.851 0.120 X 154359407 splice acceptor variant C/A snv 0.700 1.000 3 2006 2015
dbSNP: rs786205186
rs786205186
FLNA
5 0.827 0.120 X 154362417 splice donor variant C/G;T snv 0.700 1.000 3 2006 2015
dbSNP: rs797045044
rs797045044
FLNA
5 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 2 2016 2016
dbSNP: rs1557175424
rs1557175424
FLNA
2 0.925 0.080 X 154350030 splice donor variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1057516198
rs1057516198
FLNA
1 1.000 0.080 X 154359008 stop gained G/A snv 0.700 0
dbSNP: rs1060500716
rs1060500716
FLNA
4 0.851 0.120 X 154360127 missense variant G/A snv 0.700 0
dbSNP: rs1060500717
rs1060500717
FLNA
1 1.000 0.080 X 154352226 stop gained G/A;C snv 0.700 0
dbSNP: rs1060500718
rs1060500718
FLNA
4 0.851 0.120 X 154353329 frameshift variant AG/- del 0.700 0
dbSNP: rs112363874
rs112363874
FLNA
1 1.000 0.080 X 154352449 splice acceptor variant T/A;G snv 0.700 0
dbSNP: rs137853310
rs137853310
FLNA
2 0.925 0.080 X 154367920 stop gained G/A snv 0.700 0
dbSNP: rs1557177086
rs1557177086
FLNA
4 0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins 0.700 0
dbSNP: rs1557177279
rs1557177279
FLNA
4 0.851 0.120 X 154358440 splice donor variant TTACCTCC/- delins 0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
4 0.851 0.120 X 154359846 stop gained C/A;T snv 0.700 0
dbSNP: rs1557177636
rs1557177636
FLNA
4 0.851 0.120 X 154359897 frameshift variant G/- delins 0.700 0
dbSNP: rs1557177738
rs1557177738
FLNA
4 0.851 0.120 X 154360266 stop gained C/A snv 0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
4 0.851 0.120 X 154363633 intron variant A/T snv 0.700 0
dbSNP: rs1557179325
rs1557179325
FLNA
4 0.925 0.080 X 154366562 splice region variant C/T snv 0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
4 0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins 0.700 0