rs574673404, NBN

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
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
144 1.000 0.040 8 89984524 splice donor variant C/T snv 8.2E-06 2.1E-05 0.700 1.000 2 1998 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.040 8 89984524 splice donor variant C/T snv 8.2E-06 2.1E-05 0.700 0