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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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