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.
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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 10 1992 2018
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 15 2006 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 15 2006 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 15 2006 2016
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2007 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 3 2007 2015
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
12 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.800 1.000 3 2007 2010
Cardiac Hypertrophy
CUI: C1383860
Disease: Cardiac Hypertrophy
11 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Disorders of both mitral and tricuspid valves
CUI: C0348872
Disease: Disorders of both mitral and tricuspid valves
1 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Gastroesophageal reflux disease
CUI: C0017168
Disease: Gastroesophageal reflux disease
52 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007