rs199474746, 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 31227536 missense variant C/A;G snv 4.0E-06 0.800 1.000 28 1977 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 31227536 missense variant C/A;G snv 4.0E-06 0.700 1.000 4 2000 2016