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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cardio-facio-cutaneous syndrome
|
82 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.810 | 1.000 | 20 | 2006 | 2018 | ||||||
Dysmorphic features
|
617 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 1968 | 2013 | ||||||
Multiple congenital anomalies
|
350 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 1968 | 2013 | ||||||
Central hypotonia
|
25 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Depressed nasal bridge
|
39 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Developmental delay (disorder)
|
68 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Downward slant of palpebral fissure
|
49 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
High, narrow palate
|
21 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Hypertrophic Cardiomyopathy
|
635 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Hypoplasia of corpus callosum
|
49 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Intellectual Disability
|
159 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Large head (disorder)
|
116 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Orbital separation excessive
|
77 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Posteriorly rotated ear
|
23 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Postnatal onset growth deficiency
|
1 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Prominent forehead
|
25 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Pulmonary Stenosis
|
40 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Sparse hair
|
9 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||||
Alopecia
|
375 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
Congenital pectus carinatum
|
26 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
Curly hair (finding)
|
7 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
Finger joint hypermobility
|
2 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
Flared nostrils abnormality
|
1 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
High forehead
|
17 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 |