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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aplasia/Hypoplasia involving the pelvis
|
13 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Brachydactyly
|
43 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Hypoplasia of the primary teeth
|
2 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Jeune thoracic dystrophy
|
116 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Nasal bridge wide
|
29 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Oligohydramnios
|
21 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Short long bone
|
19 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Short ribs
|
27 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | ||||||||
Thoracic hypoplasia
|
16 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 |