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.
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
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
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
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
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
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
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
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Short stature
CUI: C0349588
Disease: Short stature
292 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 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
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