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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Global developmental delay
|
553 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
hearing impairment
|
337 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Microcephaly (physical finding)
|
246 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Dental caries
|
126 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Atrial Septal Defects
|
96 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Craniosynostosis
|
90 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Blepharoptosis
|
57 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Patent ductus arteriosus
|
56 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Range of joint movement increased
|
46 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Neonatal Hypotonia
|
45 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Abnormal delivery
|
37 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Nasal bridge wide
|
29 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Hypertrichosis
|
27 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Short philtrum
|
25 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Small midface
|
24 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Feeding difficulties in infancy
|
22 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Brachycephaly
|
20 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Class III malocclusion
|
19 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Neck webbing
|
19 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Macrotia
|
18 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Kyphoscoliosis deformity of spine
|
17 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Upward slant of palpebral fissure
|
16 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 |