rs1064794276, 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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.120 17 31235639 frameshift variant TTTG/- delins 0.700 1.000 34 1967 2017
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.925 0.120 17 31235639 frameshift variant TTTG/- delins 0.700 1.000 2 2000 2008