rs772468452, RAD50

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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.200 5 132595719 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
Nijmegen Breakage Syndrome-Like Disorder
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
15 1.000 0.200 5 132595719 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0