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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.900 | 1.000 | 31 | 2005 | 2018 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.840 | 1.000 | 23 | 1990 | 2019 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.830 | 1.000 | 16 | 2005 | 2017 | ||||||||
|
0.851 | 0.200 | 11 | 534259 | stop gained | G/A;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.820 | 1.000 | 2 | 2007 | 2015 | |||||||
|
0.851 | 0.160 | 11 | 533883 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 15 | 2005 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 533553 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 11 | 2005 | 2018 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 10 | 2005 | 2017 | ||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 9 | 2005 | 2014 | ||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 7 | 2005 | 2010 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.750 | 1.000 | 6 | 2006 | 2019 | ||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
Neoplasms | 0.730 | 1.000 | 4 | 2014 | 2017 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.720 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
Neoplasms | 0.720 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
Neoplasms; Endocrine System Diseases | 0.710 | 1.000 | 6 | 2007 | 2015 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.710 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.710 | 1.000 | 1 | 2012 | 2012 |