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: rs182657062
rs182657062
FANCA ; ZNF276
1 1.000 0.120 16 89739517 missense variant G/A snv 1.3E-05 1.4E-05 0.700 1.000 4 1999 2013
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 4 2005 2015
dbSNP: rs753980264
rs753980264
FANCA
1 1.000 0.120 16 89778948 stop gained G/A;C snv 8.0E-06 8.4E-05 0.700 1.000 4 1999 2015
dbSNP: rs762526878
rs762526878
FANCA
1 1.000 0.120 16 89771778 missense variant A/G snv 8.0E-06 0.700 1.000 4 2005 2014
dbSNP: rs763378933
rs763378933
FANCA
2 0.925 0.120 16 89767206 frameshift variant AG/- delins 8.0E-06 7.0E-06 0.700 1.000 4 1997 2014
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 4 2005 2014
dbSNP: rs1205909298
rs1205909298
FANCA
1 1.000 0.120 16 89767218 frameshift variant A/- delins 7.0E-06 0.700 1.000 3 1997 2009
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: rs397507553
rs397507553
FANCA ; ZNF276
2 0.925 0.120 16 89740842 inframe deletion GAA/- delins 1.0E-04 9.8E-05 0.700 1.000 3 2008 2014
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: rs868273545
rs868273545
FANCA
1 1.000 0.120 16 89742803 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 1.000 3 1997 2016
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: 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: rs1285346388
rs1285346388
FANCA
1 1.000 0.120 16 89758702 splice acceptor variant CTAGAACAGCAAACACTGC/- delins 0.700 1.000 2 1997 2008
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: rs1555534521
rs1555534521
FANCA ; ZNF276
1 1.000 0.120 16 89740818 frameshift variant -/T delins 0.700 1.000 2 2005 2018
dbSNP: rs1567618907
rs1567618907
FANCA
1 1.000 0.120 16 89770617 inframe deletion CAG/- delins 0.700 1.000 2 1999 2009
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