BCAS3, BCAS3 microtubule associated cell migration factor, 54828
N. diseases: 44; N. variants: 35
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 61161860 | intron variant | A/G | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 17 | 61215075 | intron variant | A/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 9 | 2016 | 2019 | ||||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
17 | 61372744 | intron variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
17 | 61371584 | intron variant | A/G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 60873430 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 17 | 61389340 | non coding transcript exon variant | T/A | snv | 0.59 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 17 | 61389340 | non coding transcript exon variant | T/A | snv | 0.59 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
17 | 61261213 | intron variant | A/G | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 17 | 61372275 | intron variant | G/A | snv | 0.55 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 17 | 61372275 | intron variant | G/A | snv | 0.55 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 17 | 61370008 | intron variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 17 | 61370008 | intron variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
17 | 61155004 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
17 | 61155004 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
17 | 61372744 | intron variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 60677901 | 5 prime UTR variant | C/A | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 60677901 | 5 prime UTR variant | C/A | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 61161860 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 61378114 | non coding transcript exon variant | G/C | snv | 4.9E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 17 | 61159652 | intron variant | A/C | snv | 0.66 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |