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: 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: 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: rs1060501887
rs1060501887
FANCA ; ZNF276
2 0.925 0.120 16 89738881 splice donor variant C/T 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: rs1173704265
rs1173704265
FANCA
1 1.000 0.120 16 89767208 missense variant A/G snv 7.0E-06 0.700 1.000 4 1997 2012
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: rs1188581065
rs1188581065
FANCA
1 1.000 0.120 16 89767140 splice donor variant C/A snv 7.0E-06 0.700 0
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: 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: rs1216426444
rs1216426444
FANCA
1 1.000 0.120 16 89764940 missense variant G/A;T snv 4.0E-06 0.700 0
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: rs121907930
rs121907930
FANCA
1 1.000 0.120 16 89810716 stop gained C/T snv 0.700 0
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
dbSNP: rs1232171121
rs1232171121
FANCA
2 0.925 0.120 16 89814519 splice donor variant C/A;T snv 0.700 0
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: 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: 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: rs1285346388
rs1285346388
FANCA
1 1.000 0.120 16 89758702 splice acceptor variant CTAGAACAGCAAACACTGC/- delins 0.700 1.000 2 1997 2008
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 2002 2002
dbSNP: rs1302083447
rs1302083447
FANCA
2 0.925 0.120 16 89764930 missense variant T/G snv 7.0E-06 0.700 1.000 4 2005 2018
dbSNP: rs1348367722
rs1348367722
FANCA
1 1.000 0.120 16 89799192 frameshift variant -/GACT delins 4.0E-06 0.700 0
dbSNP: rs1365019056
rs1365019056
FANCA
1 1.000 0.120 16 89810706 splice donor variant C/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1381684916
rs1381684916
FANCA
1 1.000 0.120 16 89744993 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs1388128874
rs1388128874
FANCA
1 1.000 0.120 16 89803342 splice acceptor variant C/A;G snv 0.700 0