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: rs80338682
rs80338682
MPRIP ; FLCN
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 7 2002 2015
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
2 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 6 2005 2017
dbSNP: rs398124530
rs398124530
MPRIP ; FLCN
1 1.000 0.080 17 17214990 stop gained C/T snv 0.700 1.000 6 2005 2015
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
2 1.000 0.080 17 17216506 splice region variant GGA/- delins 0.700 1.000 6 2010 2017
dbSNP: rs398124532
rs398124532
MPRIP ; FLCN
1 1.000 0.080 17 17213798 stop gained G/A;C snv 0.700 1.000 5 2006 2012
dbSNP: rs587782069
rs587782069
FLCN
3 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2016
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs879255679
rs879255679
MPRIP ; FLCN
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
1 1.000 0.080 17 17213816 stop gained G/A snv 1.4E-05 0.700 1.000 5 2005 2015
dbSNP: rs1555607273
rs1555607273
MPRIP ; FLCN
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
dbSNP: rs398124534
rs398124534
FLCN
2 1.000 0.080 17 17226276 frameshift variant T/- del 0.700 1.000 2 2005 2008
dbSNP: rs398124535
rs398124535
FLCN
2 1.000 0.080 17 17226252 frameshift variant AC/GTG delins 0.700 1.000 2 2008 2011
dbSNP: rs864622651
rs864622651
MPRIP ; FLCN
2 1.000 0.080 17 17216428 frameshift variant G/- delins 0.700 1.000 2 2008 2014
dbSNP: rs878855217
rs878855217
FLCN
2 1.000 0.080 17 17223956 frameshift variant C/- delins 7.0E-06 0.700 1.000 2 2005 2008
dbSNP: rs879255677
rs879255677
MPRIP ; FLCN
2 1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins 0.700 1.000 2 2008 2010
dbSNP: rs1060502368
rs1060502368
FLCN
2 1.000 0.080 17 17219060 frameshift variant G/- delins 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1131690840
rs1131690840
FLCN
2 1.000 0.080 17 17222662 splice acceptor variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1555608515
rs1555608515
FLCN
1 1.000 0.080 17 17219083 frameshift variant AG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1567819834
rs1567819834
FLCN
1 1.000 0.080 17 17224030 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs398124528
rs398124528
MPRIP ; FLCN
2 1.000 0.080 17 17215092 splice acceptor variant T/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs398124538
rs398124538
FLCN
1 1.000 0.080 17 17223929 stop gained GC/TA mnv 0.700 1.000 1 2010 2010
dbSNP: rs727504645
rs727504645
FLCN
1 1.000 0.080 17 17224094 frameshift variant C/- delins 0.700 1.000 1 2002 2002
dbSNP: rs876657646
rs876657646
FLCN
1 1.000 0.080 17 17223987 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs878855212
rs878855212
FLCN
1 1.000 0.080 17 17228025 frameshift variant C/- del 0.700 1.000 1 2005 2005
dbSNP: rs878855213
rs878855213
MPRIP ; FLCN
1 1.000 0.080 17 17216461 frameshift variant T/- del 0.700 1.000 1 2016 2016