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 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Absence of rib
|
1 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
amniotic fluid meconium stained
|
4 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Anterior creases of earlobe
|
2 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Apneic episodes in infancy
|
2 | 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 | |||||||||
AU-KLINE SYNDROME
|
13 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Bilateral fetal pyelectasis
|
2 | 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 | |||||||||
Brachycephaly
|
20 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Breech Presentation
|
11 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Broad neck
|
10 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Broad uvula
|
2 | 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 | |||||||||
Class III malocclusion
|
19 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Clinodactyly of fingers
|
7 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Congenital dermal melanocytosis
|
3 | 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 | |||||||||
Dental caries
|
126 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | |||||||||
Depressed nasal tip
|
3 | 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 | |||||||||
Foramen Ovale, Patent
|
14 | 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 | |||||||||
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 |