rs80338796, RAF1

N. diseases: 37
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.
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
6 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.800 1.000 1 2007 2007
CARDIOMYOPATHY, DILATED, 1NN
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
9 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Single umbilical artery
CUI: C1384670
Disease: Single umbilical artery
5 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0