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: 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: rs1490424623
rs1490424623
FLCN
1 1.000 0.080 17 17219194 stop gained G/C snv 4.0E-06 0.700 1.000 1 2010 2010
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: rs398124524
rs398124524
MPRIP ; FLCN
2 1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
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: rs398124536
rs398124536
FLCN
2 1.000 0.080 17 17226226 stop gained G/A;T snv 5.6E-05 0.700 1.000 1 2008 2008
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: 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: 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
dbSNP: rs879255664
rs879255664
FLCN
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs886039370
rs886039370
FLCN
1 1.000 0.080 17 17219017 splice donor variant A/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs1060502369
rs1060502369
FLCN
1 1.000 0.080 17 17227888 splice donor variant C/A snv 0.700 0
dbSNP: rs1060502370
rs1060502370
FLCN
1 1.000 0.080 17 17227936 frameshift variant T/- del 0.700 0
dbSNP: rs1060502371
rs1060502371
FLCN
1 1.000 0.080 17 17227899 frameshift variant T/- del 0.700 0
dbSNP: rs1064792959
rs1064792959
FLCN
2 1.000 0.080 17 17224022 frameshift variant ATGATGCTGTACCAGC/CTGAT delins 0.700 0
dbSNP: rs1131690837
rs1131690837
MPRIP ; FLCN
2 1.000 0.080 17 17216466 frameshift variant -/A delins 0.700 0
dbSNP: rs1135401752
rs1135401752
FLCN
1 1.000 0.080 17 17224107 frameshift variant C/- del 0.700 0
dbSNP: rs1254608489
rs1254608489
FLCN
1 1.000 0.080 17 17228017 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs1266098984
rs1266098984
MPRIP ; FLCN
1 1.000 0.080 17 17216380 stop gained C/A;G snv 4.0E-06 0.700 0