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
|
169 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Autism Spectrum Disorders
|
75 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Breast Carcinoma
|
763 | 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
|
6 | 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)
|
21 | 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
|
281 | 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 | |||||||||
ovarian neoplasm
|
547 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Poor school performance
|
411 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Thyroid Nodule
|
6 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
VACTERL Association With Hydrocephalus
|
7 | 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 | ||||||
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 | ||||||
Hamartoma Syndrome, Multiple
|
107 | 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 |