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 | 1 | 209790735 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1 | 209797010 | intron variant | G/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 209785814 | 3 prime UTR variant | A/G | snv | 7.0E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 209797265 | intron variant | G/A | snv | 0.36 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 209797265 | intron variant | G/A | snv | 0.36 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 209789449 | intron variant | G/A | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 209803766 | intron variant | A/G | snv | 0.82 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 209786269 | 3 prime UTR variant | G/T | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 1 | 209802041 | splice region variant | A/G | snv | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 1 | 209802041 | splice region variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.200 | 1 | 209801280 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||||
|
0.925 | 0.200 | 1 | 209788638 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 8 | 2002 | 2009 | ||||||||
|
1.000 | 0.200 | 1 | 209801409 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 8 | 2002 | 2009 | ||||||||
|
1.000 | 0.200 | 1 | 209788626 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 8 | 2002 | 2009 | ||||||||
|
1.000 | 0.200 | 1 | 209796519 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 8 | 2002 | 2009 | |||||||
|
0.925 | 0.200 | 1 | 209801280 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.200 | 1 | 209788638 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.200 | 1 | 209788614 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.200 | 1 | 209801301 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 1 | 209801301 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 1 | 209801301 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 1 | 209789740 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 1 | 209789740 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 1 | 209796453 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 1 | 209789709 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 |