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: rs137853312
rs137853312
FLNA
7 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.810 1.000 3 2003 2016
dbSNP: rs28935471
rs28935471
FLNA
1 1.000 0.080 X 154360319 missense variant T/G snv 0.800 1.000 3 2003 2016
dbSNP: rs137853316
rs137853316
FLNA
4 0.851 0.160 X 154354860 missense variant C/A snv 0.710 1.000 3 2003 2016