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
|
139 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.820 | 1.000 | 25 | 1997 | 2015 | ||||||
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
56 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
CEREBELLOPARENCHYMAL DISORDER VI
|
56 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Hamartomatous polyposis
|
3 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Lhermitte-Duclos disease
|
83 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Lipoma
|
9 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Nevus
|
43 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Penile freckling
|
11 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Proteus-Like Syndrome (disorder)
|
56 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
PTEN Hamartoma Tumor Syndrome
|
194 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
56 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Thyroid Nodule
|
17 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Tumor Cell Invasion
|
169 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2004 | ||||||
Adenocarcinoma of lung (disorder)
|
563 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Adult Glioblastoma
|
98 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Bladder Neoplasm
|
281 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
Carcinoma of bladder
|
309 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
Childhood Glioblastoma
|
98 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Glioblastoma
|
281 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Glioblastoma Multiforme
|
186 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Malignant neoplasm of urinary bladder
|
316 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
Mammary Neoplasms
|
385 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Renal fibrosis
|
1 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |