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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOTOS SYNDROME 1
|
201 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2002 | 2004 | ||||||
Abnormal behavior
|
121 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Broad-based gait
|
24 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
High anterior hairline
|
3 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
High forehead
|
17 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Hypoplasia of corpus callosum
|
49 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Osteopenia
|
61 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Overgrowth
|
93 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Pointed chin
|
13 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Pre-Eclampsia
|
14 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Recurrent otitis media
|
11 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Scoliosis, unspecified
|
135 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Sparse anterior scalp hair
|
1 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Tall stature
|
14 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Weight Gain
|
12 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 |