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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of the middle phalanx of the 5th finger
|
1 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Anteverted nostril
|
35 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Atresia of the external auditory canal
|
3 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Congenital small ears
|
13 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Delayed bone age
|
14 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Downward slant of palpebral fissure
|
49 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
EAR, PATELLA, SHORT STATURE SYNDROME
|
12 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Entropion
|
1 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Hypoplastic female external genitalia
|
1 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Intrauterine retardation
|
56 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Micrognathism
|
53 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Nasogastric tube feeding in infancy
|
9 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Patellar aplasia
|
3 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Prominent forehead
|
25 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Severe failure to thrive
|
4 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Severe postnatal growth retardation
|
5 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Subglottic stenosis
|
2 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Thick vermilion border
|
15 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Tracheomalacia
|
5 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
Umbilical hernia
|
17 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
MEIER-GORLIN SYNDROME 6
|
3 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 0 |