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: rs119464998
rs119464998
FKTN
2 0.925 0.120 9 105620001 missense variant A/G snv 2.8E-05 2.1E-05 0.800 1.000 1 2010 2010
dbSNP: rs119464997
rs119464997
FKTN
1 1.000 0.120 9 105604354 missense variant C/A;T snv 8.0E-06 0.800 0
dbSNP: rs746763506
rs746763506
FKTN
4 0.851 0.160 9 105604452 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 3 2001 2016
dbSNP: rs267606814
rs267606814
FKTN
2 0.925 0.120 9 105617967 stop gained C/G;T snv 2.0E-05 0.700 1.000 2 2007 2008
dbSNP: rs398123555
rs398123555
FKTN
3 0.882 0.160 9 105620050 frameshift variant A/-;AA delins 0.700 1.000 2 2007 2008
dbSNP: rs1309132512
rs1309132512
FKTN
2 0.925 0.120 9 105575074 frameshift variant G/- del 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1554754182
rs1554754182
FKTN
5 0.827 0.200 9 105606576 intron variant G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs398123557
rs398123557
FKTN
2 0.925 0.120 9 105604483 frameshift variant -/T delins 0.700 1.000 1 2012 2012
dbSNP: rs1057516258
rs1057516258
FKTN
1 1.000 0.120 9 105604272 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516966
rs1057516966
FKTN
1 1.000 0.120 9 105607941 frameshift variant C/- del 0.700 0
dbSNP: rs1057517160
rs1057517160
FKTN
1 1.000 0.120 9 105607829 frameshift variant CAGC/- del 0.700 0
dbSNP: rs1180986256
rs1180986256
FKTN
1 1.000 0.120 9 105575031 start lost AAT/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs119463990
rs119463990
FKTN
2 0.925 0.120 9 105596631 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs119463991
rs119463991
FKTN
1 1.000 0.120 9 105601325 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1554748292
rs1554748292
FKTN
1 1.000 0.120 9 105596596 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554752805
rs1554752805
FKTN
1 1.000 0.120 9 105604213 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554761310
rs1554761310
FKTN
1 1.000 0.120 9 105619988 frameshift variant G/- del 0.700 0
dbSNP: rs1554761402
rs1554761402
FKTN
1 1.000 0.120 9 105620018 frameshift variant AT/- del 0.700 0
dbSNP: rs1554761462
rs1554761462
FKTN
1 1.000 0.120 9 105620062 splice donor variant G/A snv 0.700 0
dbSNP: rs1554766808
rs1554766808
FKTN
1 1.000 0.120 9 105635049 splice acceptor variant A/G snv 0.700 0
dbSNP: rs370819786
rs370819786
FKTN
1 1.000 0.120 9 105607952 splice donor variant G/A;T snv 0.700 0
dbSNP: rs537001725
rs537001725
FKTN
1 1.000 0.120 9 105604256 stop gained C/A;T snv 2.4E-05; 8.0E-06 0.700 0
dbSNP: rs557699482
rs557699482
FKTN
1 1.000 0.120 9 105635050 splice acceptor variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs587777748
rs587777748
FKTN
1 1.000 0.120 9 105604298 frameshift variant -/T delins 0.700 0
dbSNP: rs587777813
rs587777813
FKTN
1 1.000 0.120 9 105601165 frameshift variant AT/- delins 0.700 0