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: 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: 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: 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: rs104886459
rs104886459
FANCC
2 0.925 0.120 9 95249225 frameshift variant C/- delins 1.2E-04 1.5E-04 0.700 1.000 2 1996 2016
dbSNP: rs1055368753
rs1055368753
BRCA1
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
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: 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: 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
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: rs1060501880
rs1060501880
FANCA
1 1.000 0.120 16 89764919 stop gained G/A;T snv 8.0E-06 0.700 0
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: rs1060501900
rs1060501900
POLG ; FANCI
1 1.000 0.120 15 89314671 stop gained T/A snv 0.700 0
dbSNP: rs11571707
rs11571707
BRCA2
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
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: rs1209807088
rs1209807088
FANCG
1 1.000 0.120 9 35077096 stop gained G/A snv 7.0E-06 0.700 0
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: 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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2018 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