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 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Abnormal maternal serum screening
|
1 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Aneurysm of aortic root
|
15 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Arachnodactyly
|
25 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Asphyxia Neonatorum
|
5 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Chronic kidney disease stage 3
|
1 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Congenital pectus excavatum
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Downward slant of palpebral fissure
|
49 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Flatfoot
|
38 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Gestational Diabetes
|
224 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hallux Varus
|
1 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hernia, Inguinal
|
21 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hypophosphatemia
|
5 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Hypophosphatemic Rickets
|
6 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Induced vaginal delivery
|
10 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Joint hyperflexibility
|
12 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Linear atrophy
|
6 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Long narrow head
|
26 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Malar flattening
|
12 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Marfan Syndrome
|
1012 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Maternal hypertension
|
22 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Neonatal respiratory distress
|
34 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Nephrocalcinosis
|
20 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
Overfolded helix
|
7 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 |