Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104886458
rs104886458
FANCC ; AOPEP
0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 1.000 15 1992 2015
dbSNP: rs121917785
rs121917785
FANCC ; AOPEP ; LOC107987102
1.000 0.120 9 95107112 missense variant A/C snv
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 1.000 9 1992 2009
dbSNP: rs121917783
rs121917783
FANCC
0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.710 1.000 3 1993 2012
dbSNP: rs104886459
rs104886459
FANCC
0.925 0.120 9 95249225 frameshift variant C/- delins 1.2E-04 1.5E-04
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 11 1992 2012
dbSNP: rs104886456
rs104886456
FANCC
0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1993 2016
dbSNP: rs104886456
rs104886456
FANCC
0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 10 1993 2009
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 10 1993 2014
dbSNP: rs121917783
rs121917783
FANCC
0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1993 2017
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 7 1993 2017
dbSNP: rs121917784
rs121917784
FANCC
0.925 0.120 9 95249255 stop gained G/A snv 8.0E-06
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 7 1993 2016
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1993 2017
dbSNP: rs121917783
rs121917783
FANCC
0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 4 1994 2016
dbSNP: rs121917784
rs121917784
FANCC
0.925 0.120 9 95249255 stop gained G/A snv 8.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 4 1993 2015
dbSNP: rs730881710
rs730881710
FANCC ; AOPEP ; LOC107987102
0.925 0.120 9 95107211 frameshift variant AG/- delins 4.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 4 1993 2016
dbSNP: rs104886456
rs104886456
FANCC
0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 3 1993 2000
dbSNP: rs1564641485
rs1564641485
FANCC ; AOPEP ; LOC107987102
1.000 0.120 9 95107197 frameshift variant AGGTCCTGGGC/- delins
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 3 1993 2014
dbSNP: rs1564720637
rs1564720637
FANCC
1.000 0.120 9 95172115 frameshift variant CT/- delins
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 3 2000 2013
dbSNP: rs371897078
rs371897078
FANCC ; AOPEP
0.925 0.120 9 95111630 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 3 2013 2018
dbSNP: rs774170058
rs774170058
FANCC
0.925 0.120 9 95172037 frameshift variant -/T delins 1.6E-05 7.0E-06
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 3 2006 2015
dbSNP: rs781542763
rs781542763
FANCC
1.000 0.120 9 95171080 stop gained G/A snv 1.6E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 3 1998 2018
dbSNP: rs104886459
rs104886459
FANCC
0.925 0.120 9 95249225 frameshift variant C/- delins 1.2E-04 1.5E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 2 1996 2016
dbSNP: rs1268491295
rs1268491295
FANCC
1.000 0.120 9 95249286 frameshift variant -/G delins
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 2 1996 2000
dbSNP: rs145394391
rs145394391
FANCC
0.925 0.120 9 95171078 splice donor variant C/T snv 8.0E-06 3.5E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 2 2018 2018
dbSNP: rs377294947
rs377294947
FANCC
1.000 0.120 9 95249227 stop gained C/T snv 2.1E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 1.000 2 1996 2008
dbSNP: rs769039987
rs769039987
FANCC
0.925 0.120 9 95150074 stop gained G/A;T snv 8.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 2 2012 2016