rs121917783, FANCC

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.710 1.000 4 1993 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.700 1.000 10 1993 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP C
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
73 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.700 1.000 4 1994 2016
Congenital vascular anomaly
CUI: C1961121
Disease: Congenital vascular anomaly
1 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.010 1.000 1 1995 1995
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.010 1.000 1 2010 2010
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.010 1.000 1 2010 2010