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: rs1343140664
rs1343140664
FANCA
1 1.000 0.120 16 89778817 frameshift variant -/A delins 0.700 0
dbSNP: rs1374769712
rs1374769712
FANCA
1 1.000 0.120 16 89742930 frameshift variant -/A delins 1.4E-05 0.700 0
dbSNP: rs1553607671
rs1553607671
FANCD2
1 1.000 0.120 3 10039339 frameshift variant -/A delins 0.700 0
dbSNP: rs730881709
rs730881709
FANCC ; AOPEP
2 0.925 0.120 9 95111489 frameshift variant -/A delins 4.0E-06 2.1E-05 0.700 0
dbSNP: rs756367276
rs756367276
FANCA
2 0.925 0.120 16 89761961 frameshift variant -/A delins 2.1E-05 0.700 0
dbSNP: rs886063898
rs886063898
FANCG
1 1.000 0.120 9 35079164 frameshift variant -/A delins 0.700 0
dbSNP: rs747851434
rs747851434
FANCA
2 0.925 0.120 16 89745026 frameshift variant -/C delins 1.2E-05 2.8E-05 0.700 1.000 3 1997 2014
dbSNP: rs863224506
rs863224506
FANCG
1 1.000 0.120 9 35079169 frameshift variant -/C delins 1.3E-05 0.700 1.000 1 2003 2003
dbSNP: rs1554842611
rs1554842611
FANCC
1 1.000 0.120 9 95171114 frameshift variant -/C delins 0.700 0
dbSNP: rs781479923
rs781479923
SLX4
1 1.000 0.120 16 3582617 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs878853671
rs878853671
FANCC
1 1.000 0.120 9 95249262 frameshift variant -/C delins 0.700 0
dbSNP: rs1567616135
rs1567616135
FANCA
1 1.000 0.120 16 89767153 frameshift variant -/CC delins 0.700 0
dbSNP: rs1554829415
rs1554829415
FANCC ; AOPEP
1 1.000 0.120 9 95111394 coding sequence variant -/CTCTGCAAGCTCCTCTCAGCCCCCCAGAGCCCACCCCAAACACATGCAGTGGGGCCTGCTACCCACCATAGTCTGTGCTCTCTGCT delins 0.700 0
dbSNP: rs774170058
rs774170058
FANCC
2 0.925 0.120 9 95172037 frameshift variant -/T delins 1.6E-05 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1567166544
rs1567166544
SLX4
1 1.000 0.120 16 3583388 frameshift variant A/- delins 0.700 1.000 2 2009 2009
dbSNP: rs864622187
rs864622187
FANCA
1 1.000 0.120 16 89814565 frameshift variant A/- del 0.700 1.000 1 2011 2011
dbSNP: rs1315905872
rs1315905872
SLX4
1 1.000 0.120 16 3608906 frameshift variant A/- del 0.700 0
dbSNP: rs1567179036
rs1567179036
POLG ; FANCI
1 1.000 0.120 15 89312913 frameshift variant A/- delins 0.700 0
dbSNP: rs1447363475
rs1447363475
FANCA
1 1.000 0.120 16 89795941 missense variant A/C snv 0.700 0
dbSNP: rs745495865
rs745495865
FANCF ; GAS2
1 1.000 0.120 11 22625809 start lost A/C;G snv 8.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs863224441
rs863224441
FANCC ; AOPEP
1 1.000 0.120 9 95126527 splice donor variant A/C;T snv 0.700 0
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: 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: rs786202344
rs786202344
BRCA2
1 1.000 0.120 13 32357926 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs879254329
rs879254329
FANCB
1 1.000 0.120 X 14865276 missense variant A/G snv 0.700 0