rs121912628, 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.
Nijmegen Breakage Syndrome-Like Disorder
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
15 1.000 0.200 5 132618182 stop gained C/G;T snv 1.6E-05 2.8E-05 0.700 1.000 4 2009 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.200 5 132618182 stop gained C/G;T snv 1.6E-05 2.8E-05 0.700 1.000 1 2009 2009