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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 46003595 | missense variant | C/T | snv | 0.16 | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
21 | 45984508 | intron variant | C/G;T | snv | 1.0E-02; 3.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
21 | 45999606 | non coding transcript exon variant | G/A | snv | 0.13 | 0.14 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
21 | 45990771 | splice acceptor variant | A/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 21 | 45984403 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 7 | 1996 | 2017 | ||||||||
|
1.000 | 0.120 | 21 | 45989626 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 7 | 2010 | 2019 | ||||||||
|
1.000 | 0.120 | 21 | 45989753 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 1993 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 45990792 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 5 | 1996 | 2010 | ||||||||
|
1.000 | 0.120 | 21 | 45989103 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1993 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 45989100 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1996 | 2010 | |||||||
|
0.925 | 0.120 | 21 | 45990827 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1999 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 45990791 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 2005 | 2018 | ||||||||
|
1.000 | 0.120 | 21 | 45987638 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1993 | 2013 | ||||||||
|
1.000 | 0.120 | 21 | 45998397 | splice acceptor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2008 | 2011 | ||||||||
|
1.000 | 0.120 | 21 | 46001252 | splice acceptor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2008 | 2011 | ||||||||
|
1.000 | 0.120 | 21 | 45990257 | splice acceptor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2008 | 2011 | ||||||||
|
1.000 | 0.120 | 21 | 45990376 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.120 | 21 | 45990771 | splice acceptor variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.120 | 21 | 45994231 | splice donor variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
1.000 | 0.120 | 21 | 45989093 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2017 | ||||||||
|
1.000 | 0.120 | 21 | 46002696 | splice donor variant | ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
1.000 | 0.120 | 21 | 45989626 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 21 | 45999190 | missense variant | A/C | snv | 1.1E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 21 | 45989094 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 21 | 45984388 | missense variant | G/A;C | snv | 4.2E-02; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |