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: rs397507553
rs397507553
FANCA ; ZNF276
2 0.925 0.120 16 89740842 inframe deletion GAA/- delins 1.0E-04 9.8E-05 0.700 1.000 3 1997 2011
dbSNP: rs747253294
rs747253294
VRK2 ; FANCL
2 0.925 0.120 2 58161533 inframe deletion ATA/- del 3.3E-04 0.700 1.000 3 2009 2016
dbSNP: rs747851434
rs747851434
FANCA
2 0.925 0.120 16 89745026 frameshift variant -/C delins 1.2E-05 2.8E-05 0.700 1.000 3 1997 2014
dbSNP: rs769547477
rs769547477
FANCG
2 0.925 0.120 9 35076030 splice acceptor variant T/C snv 1.6E-05 0.700 1.000 3 2000 2017
dbSNP: rs104886459
rs104886459
FANCC
2 0.925 0.120 9 95249225 frameshift variant C/- delins 1.2E-04 1.5E-04 0.700 1.000 2 1996 2016
dbSNP: rs1166286386
rs1166286386
FANCA
1 1.000 0.120 16 89749781 stop gained C/T snv 0.700 1.000 2 1997 2016
dbSNP: rs1205006300
rs1205006300
FANCL
1 1.000 0.120 2 58229813 splice donor variant C/A snv 1.4E-05 0.700 1.000 2 2009 2013
dbSNP: rs121434425
rs121434425
FANCG
2 0.925 0.120 9 35078338 stop gained C/A snv 1.2E-05 1.4E-05 0.700 1.000 2 1998 2000
dbSNP: rs121917787
rs121917787
FANCD2
2 0.925 0.120 3 10043065 missense variant C/T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2001 2007
dbSNP: rs144729980
rs144729980
FANCL
1 1.000 0.120 2 58226727 splice donor variant C/G;T snv 8.0E-06 0.700 1.000 2 2009 2013
dbSNP: rs149797103
rs149797103
FANCA
2 0.925 0.120 16 89744961 splice region variant G/A snv 9.7E-05 7.0E-05 0.700 1.000 2 2008 2018
dbSNP: rs1558727300
rs1558727300
VRK2 ; FANCL
1 1.000 0.120 2 58160103 splice region variant CTTAC/- delins 0.700 1.000 2 2009 2013
dbSNP: rs1558737575
rs1558737575
VRK2 ; FANCL
1 1.000 0.120 2 58163519 splice acceptor variant T/C snv 0.700 1.000 2 2009 2013
dbSNP: rs1567166544
rs1567166544
SLX4
1 1.000 0.120 16 3583388 frameshift variant A/- delins 0.700 1.000 2 2009 2009
dbSNP: rs752160950
rs752160950
FANCA
2 0.925 0.120 16 89767185 stop gained G/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 2 2005 2009
dbSNP: rs752457319
rs752457319
FANCA ; ZNF276
1 1.000 0.120 16 89739460 splice donor variant CCTGTGGGTGGAGGTACC/- delins 0.700 1.000 2 1999 2009
dbSNP: rs756140957
rs756140957
FANCA
1 1.000 0.120 16 89778942 splice donor variant C/T snv 8.0E-06 0.700 1.000 2 2009 2018
dbSNP: rs769039987
rs769039987
FANCC
2 0.925 0.120 9 95150074 stop gained G/A;T snv 8.0E-06 0.700 1.000 2 2012 2016
dbSNP: rs772359099
rs772359099
FANCA
2 0.925 0.120 16 89795922 frameshift variant GAGT/- delins 3.6E-05 3.5E-05 0.700 1.000 2 1997 2017
dbSNP: rs779834525
rs779834525
FANCG ; VCP
1 1.000 0.120 9 35074489 stop gained G/A;C snv 2.0E-05 0.700 1.000 2 2000 2001
dbSNP: rs780825099
rs780825099
FANCA
2 0.925 0.120 16 89765062 missense variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2005 2008
dbSNP: rs943009372
rs943009372
FANCD2
1 1.000 0.120 3 10036340 splice donor variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2007 2013
dbSNP: rs1057517219
rs1057517219
FANCC
2 0.925 0.120 9 95240745 splice acceptor variant T/C;G snv 0.700 1.000 1 2008 2008
dbSNP: rs1060501862
rs1060501862
FANCG
1 1.000 0.120 9 35076970 splice donor variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1060501887
rs1060501887
FANCA ; ZNF276
2 0.925 0.120 16 89738881 splice donor variant C/T snv 0.700 1.000 1 2009 2009