rs397516813, RAF1

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.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.925 0.160 3 12599717 missense variant C/G snv 0.710 1.000 1 2018 2018
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
6 0.925 0.160 3 12599717 missense variant C/G snv 0.700 0
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.925 0.160 3 12599717 missense variant C/G snv 0.010 1.000 1 2018 2018