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
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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
24 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
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