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 0.010 1.000 1 2006 2006
dbSNP: rs137853316
rs137853316
FLNA
4 0.851 0.160 X 154354860 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019