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: rs1555536446
rs1555536446
FANCA
1 1.000 0.120 16 89745063 inframe deletion CAC/- delins 0.700 1.000 7 1997 2015
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: 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: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
1 1.000 0.120 9 95107197 frameshift variant AGGTCCTGGGC/- delins 0.700 1.000 3 1993 2014
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: 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: 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: 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: 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: rs1060501862
rs1060501862
FANCG
1 1.000 0.120 9 35076970 splice donor variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1380850249
rs1380850249
FANCA
1 1.000 0.120 16 89744978 inframe deletion CTT/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1567601557
rs1567601557
FANCA
1 1.000 0.120 16 89746830 splice donor variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs745495865
rs745495865
FANCF ; GAS2
1 1.000 0.120 11 22625809 start lost A/C;G snv 8.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs766567785
rs766567785
FANCD2
1 1.000 0.120 3 10067267 missense variant G/A snv 1.3E-04 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs767518932
rs767518932
FANCG
1 1.000 0.120 9 35076871 splice acceptor variant C/G;T snv 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs786202344
rs786202344
BRCA2
1 1.000 0.120 13 32357926 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs863224506
rs863224506
FANCG
1 1.000 0.120 9 35079169 frameshift variant -/C delins 1.3E-05 0.700 1.000 1 2003 2003
dbSNP: rs864622187
rs864622187
FANCA
1 1.000 0.120 16 89814565 frameshift variant A/- del 0.700 1.000 1 2011 2011
dbSNP: rs1060501876
rs1060501876
FANCA
1 1.000 0.120 16 89767196 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs1060501878
rs1060501878
FANCA
1 1.000 0.120 16 89773304 stop gained T/A snv 0.700 0