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: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 12 2000 2016
dbSNP: rs1555536446
rs1555536446
FANCA
1 1.000 0.120 16 89745063 inframe deletion CAC/- delins 0.700 1.000 7 1997 2015
dbSNP: rs574034197
rs574034197
FANCA
2 0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05 0.700 1.000 7 1991 2012
dbSNP: rs755922289
rs755922289
FANCA
2 0.925 0.120 16 89761949 missense variant C/A;T snv 5.2E-05 0.700 1.000 6 2002 2016
dbSNP: rs769479800
rs769479800
FANCA
2 0.925 0.120 16 89816614 start lost A/G;T snv 4.1E-05; 8.3E-06 0.700 1.000 6 1999 2014
dbSNP: rs1060501879
rs1060501879
FANCA
1 1.000 0.120 16 89791458 missense variant C/A;T snv 0.700 1.000 5 1999 2009
dbSNP: rs755546887
rs755546887
FANCA
2 0.925 0.120 16 89761950 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 5 2008 2016
dbSNP: rs121917784
rs121917784
FANCC
2 0.925 0.120 9 95249255 stop gained G/A snv 8.0E-06 0.700 1.000 4 1993 2015
dbSNP: rs730881710
rs730881710
FANCC ; AOPEP ; LOC107987102
2 0.925 0.120 9 95107211 frameshift variant AG/- delins 4.0E-06 0.700 1.000 4 1993 2016
dbSNP: rs750871999
rs750871999
VRK2 ; FANCL
1 1.000 0.120 2 58160148 frameshift variant CT/-;CTCT delins 7.6E-05 0.700 1.000 4 2003 2014
dbSNP: rs753063086
rs753063086
FANCA
2 0.925 0.120 16 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.700 1.000 4 1999 2009
dbSNP: rs121434426
rs121434426
FANCG
3 0.882 0.120 9 35076442 stop gained G/A snv 4.0E-06 0.710 1.000 3 2003 2015
dbSNP: rs149616199
rs149616199
FANCG
2 0.925 0.120 9 35075278 splice donor variant C/A;G snv 2.0E-05 0.700 1.000 3 1998 2012
dbSNP: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
1 1.000 0.120 9 95107197 frameshift variant AGGTCCTGGGC/- delins 0.700 1.000 3 1993 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: rs1166286386
rs1166286386
FANCA
1 1.000 0.120 16 89749781 stop gained C/T snv 0.700 1.000 2 1997 2016
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: 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: rs765576835
rs765576835
FANCD2
4 0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012