rs397507552, FANCA

N. diseases: 2
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 0.925 0.120 16 89792034 frameshift variant CAAC/- delins 7.2E-05 5.6E-05 0.700 1.000 6 1996 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.925 0.120 16 89792034 frameshift variant CAAC/- delins 7.2E-05 5.6E-05 0.700 1.000 2 2011 2014