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 | 0.160 | 15 | 48488427 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 15 | 48473818 | intron variant | T/A | snv | 0.31 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48511642 | intron variant | T/C | snv | 0.37 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48610824 | missense variant | T/C | snv | 2.1E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 15 | 48600742 | intron variant | C/T | snv | 0.40 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 15 | 48430741 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48448844 | frameshift variant | -/AC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 15 | 48448844 | frameshift variant | -/AC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 15 | 48644768 | start lost | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48437079 | splice acceptor variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
0.925 | 0.160 | 15 | 48437079 | splice acceptor variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.160 | 15 | 48503874 | frameshift variant | CAAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48503874 | frameshift variant | CAAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 15 | 48434599 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48644767 | start lost | C/A;T | snv |
|
0.700 | 1.000 | 3 | 1973 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 48644767 | start lost | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1973 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 48520677 | missense variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2006 | 2009 | |||||||||
|
0.925 | 0.160 | 15 | 48520677 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2006 | 2009 | ||||||||
|
1.000 | 0.160 | 15 | 48600142 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 15 | 48434627 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48428459 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1973 | 2014 | ||||||||
|
0.925 | 0.160 | 15 | 48428459 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 1973 | 2014 | |||||||||
|
1.000 | 0.160 | 15 | 48472556 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 15 | 48456687 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 15 | 48513566 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 |