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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 104039613 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 104034179 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 104034272 | frameshift variant | CAGGGGGTC/C;G | delins | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 10 | 104034711 | stop gained | G/A | snv | 2.1E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 10 | 104034711 | stop gained | G/A | snv | 2.1E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 104038409 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 10 | 104034193 | missense variant | C/T | snv | 1.1E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 10 | 104041526 | stop gained | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 104072062 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 104076418 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 104043576 | splice acceptor variant | CCCTCTGAAAAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 |