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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Bilateral ptosis
|
14 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Blepharoptosis
|
57 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
blue iris (physical finding)
|
2 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Brachycephaly
|
20 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Brachydactyly
|
43 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Clinodactyly of the 5th finger
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Congenital pectus excavatum
|
36 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Cryptorchidism
|
80 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Down-sloping shoulders
|
4 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Fair hair
|
5 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Hearing Loss
|
61 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Highly arched eyebrow
|
14 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Hypertrophic Cardiomyopathy
|
635 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Leopard Syndrome 1
|
26 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Metachondromatosis
|
29 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Microcephaly (physical finding)
|
246 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Multiple lentigines
|
12 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
NOONAN SYNDROME 3
|
33 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Poor school performance
|
411 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Recurrent otitis media
|
11 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Short neck
|
29 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Smooth philtrum
|
10 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
Thin upper lip vermilion
|
25 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 |