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.
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 6 1994 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 3 2003 2014