Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 2 | 27480124 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 2 | 27480124 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 27480628 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 2 | 27480628 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 2 | 27485431 | stop gained | G/A;C | snv | 2.4E-05; 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 2 | 27480049 | missense variant | G/A | snv | 9.2E-05 | 2.9E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 2 | 27480049 | missense variant | G/A | snv | 9.2E-05 | 2.9E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 27444503 | missense variant | A/G | snv | 1.2E-05 | 4.2E-05 |
|
0.800 | 0 | |||||||||||
|
2 | 27452065 | intron variant | ACA/-;ACAACA | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 2 | 27470618 | intron variant | T/C | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27470618 | intron variant | T/C | snv | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27465734 | intron variant | C/T | snv | 0.42 | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.925 | 0.120 | 2 | 27465734 | intron variant | C/T | snv | 0.42 | 0.47 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.925 | 0.120 | 2 | 27483773 | intron variant | T/C | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27483773 | intron variant | T/C | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 2 | 27471096 | splice acceptor variant | C/A;T | snv | 4.2E-06; 8.4E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 27444430 | 3 prime UTR variant | A/G;T | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27444430 | 3 prime UTR variant | A/G;T | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 2 | 27445436 | frameshift variant | TCTC/- | delins | 8.1E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 27447544 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.160 | 2 | 27447544 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 2 | 27447567 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 2 | 27447567 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 27459449 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 27457638 | splice donor variant | C/T | snv |
|
0.700 | 0 |