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: rs104886457
rs104886457
FANCC ; AOPEP
4 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 7 1993 2017
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: rs745882980
rs745882980
FANCA ; ZNF276
2 0.925 0.120 16 89738944 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 7 2005 2018
dbSNP: rs147021911
rs147021911
FANCM
9 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 1.000 6 2005 2016
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: rs761341952
rs761341952
FANCA
2 0.925 0.120 16 89816551 stop gained C/T snv 1.2E-04 4.2E-05 0.700 1.000 5 1998 2018
dbSNP: rs121917783
rs121917783
FANCC
6 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.710 1.000 4 1993 2012
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: rs745568821
rs745568821
FANCA
2 0.925 0.120 16 89761961 stop gained G/C snv 4.0E-06; 8.0E-06 7.0E-06 0.700 1.000 4 1997 2018
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: rs104886456
rs104886456
FANCC
3 0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 0.700 1.000 3 1993 2000
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: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 3 2005 2016
dbSNP: rs148100796
rs148100796
FANCA
2 0.925 0.120 16 89799197 stop gained C/A snv 6.0E-05 5.6E-05 0.700 1.000 3 1999 2012
dbSNP: rs148473140
rs148473140
FANCA
2 0.925 0.120 16 89791459 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 3 2004 2017
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: 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: rs104886458
rs104886458
FANCC ; AOPEP
3 0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05 0.020 1.000 2 1993 1996
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