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: 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: rs758175953
rs758175953
FLCN
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 1.000 4 2005 2012
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
6 0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 0.710 1.000 3 2013 2017
dbSNP: rs368778627
rs368778627
FLCN
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 1.000 2 2008 2012
dbSNP: rs879255664
rs879255664
FLCN
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs879255658
rs879255658
FLCN
3 0.882 0.160 17 17228135 start lost C/G snv 0.700 0
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: rs786203218
rs786203218
FLCN
3 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 1.000 6 2008 2017
dbSNP: rs587782069
rs587782069
FLCN
3 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2016
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 3 2002 2008
dbSNP: rs398124542
rs398124542
FLCN
3 0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05 0.700 1.000 3 2002 2016
dbSNP: rs747370442
rs747370442
THBS1
3 0.925 0.120 15 39584048 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs758586312
rs758586312
SMAD3
3 0.925 0.120 15 67184823 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs750146811
rs750146811
FLCN
3 0.925 0.080 17 17227900 frameshift variant CGAC/- delins 1.2E-05 0.700 0
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: rs398124541
rs398124541
FLCN
2 1.000 0.080 17 17219188 frameshift variant TTCT/- delins 8.0E-06 0.700 1.000 5 2008 2016
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: rs755959303
rs755959303
MPRIP ; FLCN
2 1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs776896550
rs776896550
FLCN
2 1.000 0.080 17 17226224 frameshift variant -/T delins 4.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs1555607273
rs1555607273
MPRIP ; FLCN
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
dbSNP: rs398124529
rs398124529
MPRIP ; FLCN
1 1.000 0.080 17 17214999 inframe deletion CTT/- del 4.0E-06 7.0E-06 0.700 1.000 2 2011 2013