rs121434594, RAF1

N. diseases: 5
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 12604189 missense variant G/A;C;T snv 0.800 1.000 4 2007 2010
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 1.000 6 2007 2013
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 1.000 2 2007 2007
CARDIOMYOPATHY, DILATED, 1NN
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
9 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 0
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
6 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 0