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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
617 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 10 | 1993 | 2015 | ||||||
Abnormal cornea morphology
|
4 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Abnormal delivery
|
37 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Abnormal pupillary light reflex
|
1 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Abnormality of brain morphology
|
131 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Abnormality of inferior oblique extraocular muscle
|
1 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Abnormality of the skeletal system
|
18 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Absent distal interphalangeal creases
|
1 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Absent frontal sinuses
|
1 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Absent speech
|
72 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Actual Aspiration
|
8 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Adrenal gland hypofunction
|
10 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Bradycardia
|
2 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Central Diabetes Insipidus
|
21 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Central hypothyroidism
|
3 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Chronic lung disease
|
12 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Clinodactyly of the 5th toe
|
4 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Complete duplication of thumb phalanx
|
1 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Congenital Camptodactyly
|
10 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Congenital overgrowth of lower limb
|
2 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Congenital pectus excavatum
|
36 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Contracture of joint of hand
|
5 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Craniosynostosis
|
90 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
Decreased circulating cortisol level
|
2 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 |