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: rs1555538571
rs1555538571
FANCA
1 1.000 0.120 16 89749730 missense variant C/T snv 0.700 1.000 3 2005 2014
dbSNP: rs1555545592
rs1555545592
FANCA
1 1.000 0.120 16 89765068 splice acceptor variant T/A snv 0.700 1.000 3 1999 2013
dbSNP: rs1555580427
rs1555580427
FANCA
1 1.000 0.120 16 89815903 stop gained G/A snv 0.700 1.000 3 1999 2016
dbSNP: rs17233497
rs17233497
FANCA
2 0.925 0.120 16 89748744 missense variant G/A snv 5.1E-02 5.2E-02 0.710 1.000 3 2008 2013
dbSNP: rs751266148
rs751266148
FANCA
1 1.000 0.120 16 89748658 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 3 2013 2016
dbSNP: rs753700179
rs753700179
FANCA ; ZNF276
1 1.000 0.120 16 89740015 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 3 2009 2018
dbSNP: rs915983602
rs915983602
FANCA ; ZNF276
1 1.000 0.120 16 89738710 splice acceptor variant T/A;C;G snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 3 2004 2016
dbSNP: rs927630499
rs927630499
FANCA
1 1.000 0.120 16 89758688 stop gained C/T snv 0.700 1.000 3 2008 2013
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: rs1247378731
rs1247378731
FANCA
1 1.000 0.120 16 89767213 stop gained G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.700 1.000 2 2005 2005
dbSNP: rs1438828232
rs1438828232
FANCA
1 1.000 0.120 16 89784946 stop gained G/A snv 4.0E-06 0.700 1.000 2 2012 2013
dbSNP: rs1448463647
rs1448463647
FANCA
1 1.000 0.120 16 89771803 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs17225943
rs17225943
FANCA
1 1.000 0.120 16 89803296 missense variant T/C snv 4.5E-03 1.8E-02 0.700 1.000 2 2008 2009
dbSNP: rs17227396
rs17227396
FANCA ; ZNF276
1 1.000 0.120 16 89739264 missense variant C/T snv 4.8E-03 1.4E-03 0.700 1.000 2 2008 2009
dbSNP: rs372163487
rs372163487
FANCA
1 1.000 0.120 16 89799620 stop gained G/A snv 1.2E-05 1.4E-05 0.700 1.000 2 2005 2011
dbSNP: rs772751654
rs772751654
FANCA
1 1.000 0.120 16 89816615 start lost T/A;C;G snv 8.3E-06; 1.7E-05; 2.5E-05 0.700 1.000 2 1999 2005
dbSNP: rs976556567
rs976556567
FANCA
1 1.000 0.120 16 89796020 splice acceptor variant T/C snv 7.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs986710868
rs986710868
FANCA ; ZNF276
1 1.000 0.120 16 89740044 stop gained A/C;T snv 4.0E-06 0.700 1.000 2 1997 2013
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 0.710 1.000 1 2005 2005
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: rs1184639006
rs1184639006
FANCA
1 1.000 0.120 16 89803333 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs121434426
rs121434426
FANCG
3 0.882 0.120 9 35076442 stop gained G/A snv 4.0E-06 0.010 1.000 1 2013 2013
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 0.010 1.000 1 2010 2010