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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Neoplasms
|
1644 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Muscle hypotonia
|
579 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Poor school performance
|
411 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Scoliosis, unspecified
|
135 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Dysmorphic facies
|
106 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Atrial Septal Defects
|
96 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Strabismus
|
89 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Ventricular Septal Defects
|
87 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Cerebral Hemorrhage
|
78 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Headache
|
75 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Diarrhea
|
63 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Acid reflux
|
58 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Constipation
|
57 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Patent ductus arteriosus
|
56 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Sunken eyes
|
54 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Premature Birth
|
50 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Memory impairment
|
48 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Vitamin D Deficiency
|
37 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Congenital pectus excavatum
|
36 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Anteverted nostril
|
35 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Vertigo
|
35 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
Arthralgia
|
27 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 |