rs1554096791, RAD50

N. diseases: 1
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 132559336 frameshift variant C/- delins 0.700 0