rs199474747, NF1

N. diseases: 3
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 0.925 0.120 17 31229155 missense variant T/C;G snv 0.800 1.000 32 1990 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.120 17 31229155 missense variant T/C;G snv 0.700 1.000 5 2000 2014
Mid aortic syndrome
CUI: C3805239
Disease: Mid aortic syndrome
3 0.925 0.120 17 31229155 missense variant T/C;G snv 0.700 1.000 1 2018 2018