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 1
|
83 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | ||||||
Noonan Syndrome
|
187 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.710 | 1.000 | 17 | 2002 | 2013 | ||||||
Juvenile Myelomonocytic Leukemia
|
70 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.710 | 1.000 | 15 | 2002 | 2013 | ||||||
Dysmorphic features
|
617 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 1.000 | 20 | 1968 | 2016 | ||||||
Multiple congenital anomalies
|
350 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 1.000 | 20 | 1968 | 2016 | ||||||
Astigmatism
|
45 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||||
Refractive amblyopia
|
1 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||||
Short stature
|
292 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||||
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 |