rs397516830, 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 12604182 missense variant A/C;G;T snv 0.800 1.000 4 2007 2010
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 1.000 2 2007 2007
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 1.000 1 2012 2012
CARDIOMYOPATHY, DILATED, 1NN
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
9 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 0
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
6 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 0