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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Autism Spectrum Disorders
|
331 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
56 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
CEREBELLOPARENCHYMAL DISORDER VI
|
56 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Developmental delay (disorder)
|
68 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Endometrial Carcinoma
|
326 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Intracranial Meningioma
|
3 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Lhermitte-Duclos disease
|
83 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Lipoma
|
9 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
MACROCEPHALY/AUTISM SYNDROME
|
21 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
ovarian neoplasm
|
757 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Papillary thyroid carcinoma
|
204 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Penile freckling
|
11 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Poor school performance
|
411 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Proteus-Like Syndrome (disorder)
|
56 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
56 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Thyroid Nodule
|
17 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Type 1 Papillary Renal Cell Carcinoma
|
14 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Macrocephaly
|
10 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Mammary Neoplasms
|
385 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | ||||||
Hamartoma Syndrome, Multiple
|
139 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.710 | 1.000 | 5 | 1997 | 2016 | ||||||
Non-Small Cell Lung Carcinoma
|
712 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1998 | 2010 | ||||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 1997 | 2017 | ||||||
PTEN Hamartoma Tumor Syndrome
|
194 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 1997 | 2014 | ||||||
Colorectal Neoplasms
|
609 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 10 | 2004 | 2012 |