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.
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.851 0.240 12 112419116 missense variant C/T snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.240 12 112419116 missense variant C/T snv 0.700 1.000 4 2003 2014
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.851 0.240 12 112419116 missense variant C/T snv 0.700 0
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.851 0.240 12 112419116 missense variant C/T snv 0.010 1.000 1 2009 2009