rs199474742, NF1

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.
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 1.000 0.120 17 31235728 stop gained C/G;T snv 4.0E-06 0.800 1.000 34 1990 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 31235728 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 1995 2011