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: rs1057516291
rs1057516291
FANCC
3 0.925 0.120 9 95240655 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1060501876
rs1060501876
FANCA
1 1.000 0.120 16 89767196 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs1060501878
rs1060501878
FANCA
1 1.000 0.120 16 89773304 stop gained T/A snv 0.700 0
dbSNP: rs1060501880
rs1060501880
FANCA
1 1.000 0.120 16 89764919 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1060501900
rs1060501900
POLG ; FANCI
1 1.000 0.120 15 89314671 stop gained T/A snv 0.700 0
dbSNP: rs1209807088
rs1209807088
FANCG
1 1.000 0.120 9 35077096 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1289665675
rs1289665675
FANCD2
1 1.000 0.120 3 10067310 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs1315905872
rs1315905872
SLX4
1 1.000 0.120 16 3608906 frameshift variant A/- del 0.700 0
dbSNP: rs1338138752
rs1338138752
FANCA
1 1.000 0.120 16 89805345 frameshift variant CA/- delins 0.700 0
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: rs1432988639
rs1432988639
FANCA ; ZNF276
2 0.925 0.120 16 89740803 splice donor variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs1447363475
rs1447363475
FANCA
1 1.000 0.120 16 89795941 missense variant A/C snv 0.700 0
dbSNP: rs149277003
rs149277003
FANCA
2 0.925 0.120 16 89746890 missense variant T/C snv 2.5E-05 5.6E-05 0.700 0
dbSNP: rs1553435610
rs1553435610
VRK2 ; FANCL
1 1.000 0.120 2 58163447 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs1553607671
rs1553607671
FANCD2
1 1.000 0.120 3 10039339 frameshift variant -/A 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: rs1554829441
rs1554829441
FANCC ; AOPEP
2 0.925 0.120 9 95111462 splice donor variant C/A snv 0.700 0
dbSNP: rs1554833186
rs1554833186
FANCC ; AOPEP
1 1.000 0.120 9 95126528 splice donor variant C/G snv 0.700 0
dbSNP: rs1554842611
rs1554842611
FANCC
1 1.000 0.120 9 95171114 frameshift variant -/C delins 0.700 0
dbSNP: rs1555538740
rs1555538740
FANCA
1 1.000 0.120 16 89749884 stop gained C/A snv 0.700 0
dbSNP: rs1555548512
rs1555548512
FANCA
2 0.925 0.120 16 89771722 stop gained G/A snv 0.700 0
dbSNP: rs1564720605
rs1564720605
FANCC
1 1.000 0.120 9 95172103 frameshift variant TT/- del 0.700 0
dbSNP: rs1567170994
rs1567170994
SLX4
1 1.000 0.120 16 3591189 frameshift variant C/- delins 0.700 0
dbSNP: rs1567179036
rs1567179036
POLG ; FANCI
1 1.000 0.120 15 89312913 frameshift variant A/- delins 0.700 0