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: rs267606816
rs267606816
FLNA
2 0.925 0.200 X 154367403 missense variant C/T snv 0.710 1.000 1 2007 2007
dbSNP: rs267606817
rs267606817
FLNA
2 0.925 0.200 X 154364263 missense variant A/T snv 0.710 1.000 1 2007 2007
dbSNP: rs267606815
rs267606815
FLNA
2 0.925 0.200 X 154364638 missense variant G/A;T snv 5.5E-06 0.700 1.000 1 2007 2007
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011