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: 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: 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: 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: 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: rs1166286386
rs1166286386
FANCA
1 1.000 0.120 16 89749781 stop gained C/T snv 0.700 1.000 2 1997 2016
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: 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: 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: 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: rs1057516430
rs1057516430
FANCA
2 0.925 0.120 16 89811060 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1291524243
rs1291524243
FANCA
2 0.925 0.120 16 89799203 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs375656231
rs375656231
FANCI
2 0.925 0.120 15 89293963 stop gained A/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs80359183
rs80359183
BRCA2
4 0.882 0.120 13 32380096 stop gained T/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs1057516291
rs1057516291
FANCC
3 0.925 0.120 9 95240655 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1060501878
rs1060501878
FANCA
1 1.000 0.120 16 89773304 stop gained T/A snv 0.700 0
dbSNP: rs1060501880
rs1060501880
FANCA
1 1.000 0.120 16 89764919 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1060501900
rs1060501900
POLG ; FANCI
1 1.000 0.120 15 89314671 stop gained T/A snv 0.700 0
dbSNP: rs1209807088
rs1209807088
FANCG
1 1.000 0.120 9 35077096 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1289665675
rs1289665675
FANCD2
1 1.000 0.120 3 10067310 stop gained C/G snv 4.0E-06 0.700 0