TWIST1, twist family bHLH transcription factor 1, 7291
N. diseases: 559; N. variants: 31
Source: ALL
| 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 | 0.080 | 7 | 19116966 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 1997 | 2001 | ||||||||
|
1.000 | 0.080 | 7 | 19116856 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 1997 | 2001 | ||||||||
|
1.000 | 0.080 | 7 | 19116930 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 1997 | 2001 | ||||||||
|
1.000 | 0.080 | 7 | 19116766 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 7 | 19116759 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 7 | 19116972 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 19117013 | stop gained | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.710 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.080 | 7 | 19116927 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 10 | 1998 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 19116927 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 10 | 1998 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 19116905 | inframe insertion | -/GGCAGCGTGGGGATGATCTTC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 1997 | 2010 | ||||||||
|
0.925 | 0.080 | 7 | 19116905 | inframe insertion | -/GGCAGCGTGGGGATGATCTTC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 1997 | 2010 | ||||||||
|
0.925 | 0.080 | 7 | 19116946 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 5 | 1997 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 19116946 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 5 | 1997 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 19116976 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||||||
|
0.925 | 0.080 | 7 | 19116976 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||||||
|
0.925 | 0.080 | 7 | 19117180 | frameshift variant | CGCGCTGCGCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 19117180 | frameshift variant | CGCGCTGCGCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 19093449 | intron variant | G/T | snv | 0.57 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 7 | 19116913 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 7 | 19116913 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
7 | 19023152 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 19066916 | intron variant | G/A | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 7 | 19056601 | intron variant | A/G | snv | 2.8E-02 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 7 | 19117240 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 19116781 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |