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: rs121434548
rs121434548
CAPN3
2 0.925 0.120 15 42401755 missense variant G/A;C snv 6.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
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