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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hamartoma Syndrome, Multiple
|
98 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.730 | 1.000 | 7 | 1997 | 2015 | ||||||
Lhermitte-Duclos disease
|
58 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.720 | 1.000 | 7 | 1997 | 2015 | ||||||
Muscle hypotonia
|
579 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | ||||||
Overgrowth
|
93 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | ||||||
PTEN Hamartoma Tumor Syndrome
|
193 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 9 | 1997 | 2015 | ||||||
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
56 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||||
CEREBELLOPARENCHYMAL DISORDER VI
|
56 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||||
MACROCEPHALY/AUTISM SYNDROME
|
21 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2014 | ||||||
Proteus-Like Syndrome (disorder)
|
56 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
56 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||||
Brain Neoplasms
|
118 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
Anxiety
|
20 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Autism Spectrum Disorders
|
70 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Breast Carcinoma
|
37 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Developmental delay (disorder)
|
31 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Developmental Disabilities
|
1 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
GLIOMA SUSCEPTIBILITY 2
|
5 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hamartoma
|
5 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Immunoglobulin A deficiency (disorder)
|
2 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Malignant neoplasm of prostate
|
72 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
|
16 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Neoplastic Syndromes, Hereditary
|
6385 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Obsessive compulsive behavior
|
9 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Ovarian mucinous tumor
|
1 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 |