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: rs1060501879
rs1060501879
FANCA
1 1.000 0.120 16 89791458 missense variant C/A;T snv 0.700 1.000 5 1999 2009
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: 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: 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: 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: rs1055368753
rs1055368753
BRCA1
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1057516430
rs1057516430
FANCA
2 0.925 0.120 16 89811060 stop gained G/A snv 0.010 1.000 1 2005 2005
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: rs1057519413
rs1057519413
RAD51
2 0.925 0.120 15 40729955 missense variant G/A snv 0.010 1.000 1 2015 2015
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
dbSNP: rs1232171121
rs1232171121
FANCA
2 0.925 0.120 16 89814519 splice donor variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1302083447
rs1302083447
FANCA
2 0.925 0.120 16 89764930 missense variant T/G snv 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1380850249
rs1380850249
FANCA
1 1.000 0.120 16 89744978 inframe deletion CTT/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1555524842
rs1555524842
RFWD3
3 0.882 0.120 16 74628505 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1555540076
rs1555540076
FANCA
2 0.925 0.120 16 89752223 splice acceptor variant C/G snv 0.700 1.000 1 2009 2009
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: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs28897746
rs28897746
BRCA2
2 1.000 0.120 13 32363259 missense variant T/C snv 0.010 1.000 1 2016 2016