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 | 0.120 | X | 154765505 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1999 | 2014 | ||||||||
|
0.925 | 0.120 | X | 154762824 | 5 prime UTR variant | C/G | snv | 2.3E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2001 | 2002 | |||||||
|
1.000 | 0.120 | X | 154765938 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | X | 154770804 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | X | 154773227 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 154774672 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154770792 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154770808 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154765478 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154765465 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154774651 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154765931 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154773144 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 154774650 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 |