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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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
|
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
|
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
|
187 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 1992 | 2018 | |||||
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
159 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | |||||
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
|
122 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | |||||
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
|
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
|
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
|
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)
|
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
|
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
|
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
|
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
|
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
|
24 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |