rs397516827, RAF1

N. diseases: 9
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 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.800 1.000 4 2007 2010
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 1.000 2 2007 2007
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
Pointed helix
CUI: C4020951
Disease: Pointed helix
1 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0