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: rs747892390
rs747892390
FANCA ; ZNF276
2 0.925 0.120 16 89739218 frameshift variant TACATGTCCACAGC/- del 8.0E-06 0.700 1.000 2 1997 2008
dbSNP: rs1278836130
rs1278836130
FANCA
1 1.000 0.120 16 89758648 frameshift variant T/- del 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1555545553
rs1555545553
FANCA
1 1.000 0.120 16 89765037 frameshift variant TG/- del 0.700 1.000 1 2016 2016
dbSNP: rs1555549451
rs1555549451
FANCA
1 1.000 0.120 16 89773341 frameshift variant C/- del 0.700 1.000 1 1997 1997
dbSNP: rs753830492
rs753830492
FANCD2
1 1.000 0.120 3 10063808 frameshift variant A/- del 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs762902309
rs762902309
FANCA ; ZNF276
1 1.000 0.120 16 89739285 frameshift variant G/- del 3.5E-05 0.700 1.000 1 1999 1999
dbSNP: rs1555535472
rs1555535472
FANCA
1 1.000 0.120 16 89742820 frameshift variant G/- del 0.700 0
dbSNP: rs587776570
rs587776570
FANCA
1 1.000 0.120 16 89782879 frameshift variant A/- del 0.700 0
dbSNP: rs757504102
rs757504102
FANCA
1 1.000 0.120 16 89778980 stop gained ACGTAG/- del 0.700 0
dbSNP: rs772359099
rs772359099
FANCA
2 0.925 0.120 16 89795922 frameshift variant GAGT/- delins 3.6E-05 3.5E-05 0.700 1.000 5 1997 2014
dbSNP: rs776969626
rs776969626
FANCA ; ZNF276
1 1.000 0.120 16 89739175 frameshift variant TG/- delins 0.700 1.000 5 2011 2016
dbSNP: rs1283284704
rs1283284704
FANCA
1 1.000 0.120 16 89761970 stop gained -/TCAGGTTGAATTTCCAGCT delins 4.0E-06 2.1E-05 0.700 1.000 4 1997 2015
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: 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: 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: 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: rs1285346388
rs1285346388
FANCA
1 1.000 0.120 16 89758702 splice acceptor variant CTAGAACAGCAAACACTGC/- delins 0.700 1.000 2 1997 2008
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: rs397507552
rs397507552
FANCA
2 0.925 0.120 16 89792034 frameshift variant CAAC/- delins 7.2E-05 5.6E-05 0.700 1.000 2 2011 2014
dbSNP: rs769580546
rs769580546
FANCA
2 0.925 0.120 16 89792519 frameshift variant CT/- delins 8.0E-06 7.0E-06 0.700 1.000 2 2005 2008
dbSNP: rs1555535527
rs1555535527
FANCA
1 1.000 0.120 16 89742869 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1555547955
rs1555547955
FANCA
1 1.000 0.120 16 89770613 frameshift variant -/C delins 0.700 1.000 1 2000 2000
dbSNP: rs1555564451
rs1555564451
FANCA
1 1.000 0.120 16 89795917 frameshift variant GGCTGTG/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1555575253
rs1555575253
FANCA
1 1.000 0.120 16 89810953 frameshift variant -/G delins 0.700 1.000 1 1997 1997