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: rs770606675
rs770606675
FLNC
3 0.882 0.120 7 128841304 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1114167361
rs1114167361
FLNC
6 0.827 0.160 7 128845022 missense variant C/T snv 0.700 1.000 2 2011 2015
dbSNP: rs1554401581
rs1554401581
FLNC ; FLNC-AS1
3 0.882 0.120 7 128855315 splice donor variant G/A snv 0.700 1.000 2 2016 2016
dbSNP: rs781135153
rs781135153
FLNC
3 0.882 0.120 7 128845989 splice acceptor variant G/C snv 1.2E-05 1.4E-05 0.700 1.000 2 2014 2016
dbSNP: rs112903432
rs112903432
FLNC
3 0.882 0.120 7 128842700 splice donor variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1446694237
rs1446694237
FLNC
3 0.882 0.120 7 128841511 stop gained G/A;T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1554399513
rs1554399513
FLNC
3 0.882 0.120 7 128846129 frameshift variant -/TACC delins 0.700 1.000 1 2016 2016
dbSNP: rs1554400021
rs1554400021
FLNC
3 0.882 0.120 7 128848693 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1562991776
rs1562991776
FLNC
3 0.882 0.120 7 128837258 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1563005607
rs1563005607
FLNC ; FLNC-AS1
3 0.882 0.120 7 128857337 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs748416758
rs748416758
FLNC ; FLNC-AS1
3 0.882 0.120 7 128854661 stop gained C/T snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs749889670
rs749889670
FLNC
3 0.882 0.120 7 128844656 splice acceptor variant A/G snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs774945928
rs774945928
FLNC
3 0.882 0.120 7 128849329 splice acceptor variant A/T snv 4.0E-06 0.700 1.000 1 2016 2016