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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 14 | 24240635 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.810 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.200 | 14 | 24240635 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2018 | |||||||||
|
0.882 | 0.200 | 14 | 24240642 | stop gained | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.120 | 14 | 24240636 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.200 | 14 | 24240642 | stop gained | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 14 | 24240636 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
14 | 24242592 | 5 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.080 | 14 | 24242252 | stop gained | G/T | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 24242252 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 14 | 24240301 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240633 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240632 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240630 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240630 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240620 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240618 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240614 | missense variant | GG/CT | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240609 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240588 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 14 | 24240544 | stop gained | G/T | snv | 2.1E-04 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 14 | 24240675 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 24240669 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 14 | 24240470 | frameshift variant | C/-;CC | delins | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 14 | 24240654 | frameshift variant | T/- | del |
|
0.700 | 0 | |||||||||||||
|
0.827 | 0.200 | 14 | 24240635 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2008 | 2015 |