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: rs869312718
rs869312718
FERMT1
1 1.000 0.160 20 6089031 missense variant A/G snv 0.800 1.000 3 2003 2011
dbSNP: rs869312719
rs869312719
FERMT1
1 1.000 0.160 20 6084083 missense variant A/G snv 0.800 1.000 3 2003 2011
dbSNP: rs121918293
rs121918293
FERMT1
1 1.000 0.160 20 6107570 stop gained G/A snv 3.2E-05 5.6E-05 0.710 1.000 4 2003 2006
dbSNP: rs146180696
rs146180696
FERMT1
1 1.000 0.160 20 6097571 stop gained C/A snv 6.4E-05 4.9E-05 0.700 1.000 5 2003 2015
dbSNP: rs142328166
rs142328166
FERMT1
1 1.000 0.160 20 6085276 stop gained G/A;T snv 4.1E-04 0.700 1.000 1 2015 2015
dbSNP: rs779612399
rs779612399
FERMT1
1 1.000 0.160 20 6097592 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs866141540
rs866141540
FERMT1
1 1.000 0.160 20 6096996 frameshift variant GT/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs869312722
rs869312722
FERMT1
1 1.000 0.160 20 6122775 splice region variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs869312724
rs869312724
FERMT1
1 1.000 0.160 20 6110493 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs869312725
rs869312725
FERMT1
1 1.000 0.160 20 6097523 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs869312727
rs869312727
FERMT1
1 1.000 0.160 20 6094937 splice donor variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs869312730
rs869312730
FERMT1
1 1.000 0.160 20 6089053 stop gained A/C;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs869312731
rs869312731
FERMT1
1 1.000 0.160 20 6079448 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs121918292
rs121918292
FERMT1
1 1.000 0.160 20 6107594 stop gained G/A snv 0.700 0
dbSNP: rs121918294
rs121918294
FERMT1
1 1.000 0.160 20 6097619 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1568654138
rs1568654138
FERMT1
1 1.000 0.160 20 6084043 frameshift variant -/T ins 0.700 0
dbSNP: rs1568664492
rs1568664492
FERMT1
1 1.000 0.160 20 6112545 frameshift variant T/- delins 0.700 0
dbSNP: rs748240859
rs748240859
FERMT1
1 1.000 0.160 20 6110368 frameshift variant G/-;GG delins 8.0E-06 0.700 0
dbSNP: rs869312720
rs869312720
FERMT1
1 1.000 0.160 20 6115895 inframe deletion CGA/- delins 0.700 0
dbSNP: rs869312721
rs869312721
FERMT1
1 1.000 0.160 20 6077338 inframe deletion TGA/- delins 0.700 0
dbSNP: rs869312723
rs869312723
FERMT1
1 1.000 0.160 20 6115823 frameshift variant A/- del 0.700 0
dbSNP: rs869312726
rs869312726
FERMT1
1 1.000 0.160 20 6097034 splice acceptor variant C/T snv 0.700 0
dbSNP: rs869312728
rs869312728
FERMT1
1 1.000 0.160 20 6094199 intron variant C/G;T snv 0.700 0
dbSNP: rs869312729
rs869312729
FERMT1
1 1.000 0.160 20 6089068 frameshift variant T/- delins 0.700 0
dbSNP: rs765716291
rs765716291
FERMT1
1 1.000 0.160 20 6115868 stop gained G/A snv 3.2E-05 4.2E-05 0.010 1.000 1 2014 2014