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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Anxiety
|
287 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Arteriovenous hemangioma
|
14 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Autism Spectrum Disorders
|
331 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Brain Neoplasms
|
204 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
Breast Carcinoma
|
2793 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
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 | ||||||
Congenital arteriovenous malformation
|
23 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Developmental delay (disorder)
|
68 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Developmental Disabilities
|
19 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
GLIOMA SUSCEPTIBILITY 2
|
6 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hamartoma
|
8 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hamartoma Syndrome, Multiple
|
139 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.730 | 1.000 | 8 | 1997 | 2015 | ||||||
Immunoglobulin A deficiency (disorder)
|
25 | 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 | |||||||||
Lhermitte-Duclos disease
|
83 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.720 | 1.000 | 8 | 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 | ||||||
Malignant neoplasm of prostate
|
1082 | 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 | |||||||||
Muscle hypotonia
|
579 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | ||||||
Neoplasms
|
1644 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Obsessive compulsive behavior
|
16 | 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 | |||||||||
ovarian neoplasm
|
757 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 |