rs104886456, FANCC

N. diseases: 3
Source: CLINVAR ×
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, COMPLEMENTATION GROUP C
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
71 0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 0.700 1.000 10 1993 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 0.700 1.000 10 1993 2016
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
142 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