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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormal delivery
|
37 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Abnormality of pelvic girdle bone morphology
|
5 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Abnormality of the acetabulum
|
5 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Abnormality of the upper limb
|
4 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Abnormality of the vertebral column
|
5 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Acromelia
|
2 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Anteverted nostril
|
35 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Birth length less than 3rd percentile
|
13 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Brachydactyly
|
43 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Deformity of lower limb
|
5 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Depressed nasal bridge
|
39 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Disproportionate short stature
|
6 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Disproportionate short-limb short stature
|
5 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Foot Deformities
|
5 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Gestational Diabetes
|
224 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Hand deformities
|
2 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Hypoplasia involving bones of the upper limbs
|
3 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Hypoplasia of lower limb
|
3 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Irregular vertebral endplates
|
2 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Lordosis
|
15 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Mesomelia
|
4 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Neonatal hypoglycemia
|
13 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | |||||||||
Neonatal Hypotonia
|
45 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 |