Gene: FANCC ×
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: rs121917783
rs121917783
FANCC
6 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.710 1.000 4 1993 2012
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
4 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 7 1993 2017
dbSNP: rs121917784
rs121917784
FANCC
2 0.925 0.120 9 95249255 stop gained G/A snv 8.0E-06 0.700 1.000 4 1993 2015
dbSNP: rs730881710
rs730881710
FANCC ; AOPEP ; LOC107987102
2 0.925 0.120 9 95107211 frameshift variant AG/- delins 4.0E-06 0.700 1.000 4 1993 2016
dbSNP: rs104886456
rs104886456
FANCC
3 0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 0.700 1.000 3 1993 2000
dbSNP: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
1 1.000 0.120 9 95107197 frameshift variant AGGTCCTGGGC/- delins 0.700 1.000 3 1993 2014
dbSNP: rs104886459
rs104886459
FANCC
2 0.925 0.120 9 95249225 frameshift variant C/- delins 1.2E-04 1.5E-04 0.700 1.000 2 1996 2016
dbSNP: rs769039987
rs769039987
FANCC
2 0.925 0.120 9 95150074 stop gained G/A;T snv 8.0E-06 0.700 1.000 2 2012 2016
dbSNP: rs1057517219
rs1057517219
FANCC
2 0.925 0.120 9 95240745 splice acceptor variant T/C;G snv 0.700 1.000 1 2008 2008
dbSNP: rs145394391
rs145394391
FANCC
2 0.925 0.120 9 95171078 splice donor variant C/T snv 8.0E-06 3.5E-05 0.700 1.000 1 2008 2008
dbSNP: rs730881708
rs730881708
FANCC
2 0.925 0.120 9 95171110 frameshift variant CTCT/-;CT delins 1.4E-05 0.700 1.000 1 2016 2016
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: rs774209201
rs774209201
FANCC ; AOPEP
2 0.925 0.120 9 95126582 splice acceptor variant C/G snv 8.0E-06 1.4E-05 0.700 1.000 1 2008 2008
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: 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: rs1564720605
rs1564720605
FANCC
1 1.000 0.120 9 95172103 frameshift variant TT/- del 0.700 0
dbSNP: rs370510954
rs370510954
FANCC ; AOPEP
3 0.925 0.120 9 95125085 splice donor variant C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs371897078
rs371897078
FANCC ; AOPEP
2 0.925 0.120 9 95111630 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 0
dbSNP: rs587779904
rs587779904
FANCC
2 0.925 0.120 9 95172133 frameshift variant ATGAGA/T delins 1.2E-05 0.700 0
dbSNP: rs587779909
rs587779909
FANCC ; AOPEP
2 0.925 0.120 9 95135345 splice donor variant C/G;T snv 8.0E-06 2.1E-05 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: rs730881731
rs730881731
FANCC
2 0.925 0.120 9 95240675 stop gained G/A snv 0.700 0