rs80338797, RAF1

N. diseases: 7
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 5
CUI: C1969057
Disease: Noonan Syndrome 5
12 0.827 0.160 3 12584624 missense variant G/C;T snv 0.800 1.000 4 2007 2010
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
6 0.827 0.160 3 12584624 missense variant G/C;T snv 0.800 1.000 1 2007 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.160 3 12584624 missense variant G/C;T snv 0.710 1.000 8 2007 2018
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.160 3 12584624 missense variant G/C;T snv 0.700 1.000 15 2006 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.827 0.160 3 12584624 missense variant G/C;T snv 0.700 1.000 15 2006 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.827 0.160 3 12584624 missense variant G/C;T snv 0.700 1.000 5 2007 2010
Deformity of bone
CUI: C0410719
Disease: Deformity of bone
2 0.827 0.160 3 12584624 missense variant G/C;T snv 0.010 1.000 1 2018 2018