DOT1L, DOT1 like histone lysine methyltransferase, 84444
N. diseases: 79; N. variants: 18
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv |
|
Musculoskeletal Diseases | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
19 | 2176404 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||||
|
0.925 | 0.200 | 19 | 2176587 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
19 | 2170955 | intron variant | A/T | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | ||||||||||
|
19 | 2206576 | intron variant | G/T | snv | 0.21 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
19 | 2171491 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 2176404 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
19 | 2173837 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2224388 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 2165843 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 2181608 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 2175892 | intron variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 2175892 | intron variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
19 | 2170955 | intron variant | A/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
19 | 2190775 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 2226773 | missense variant | G/C | snv | 0.17 | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 2183176 | intron variant | G/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2167879 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 2177626 | intron variant | T/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2181758 | intron variant | ACCAGC/-;ACCAGCACCAGC | delins | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2186758 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.200 | 19 | 2176587 | intron variant | A/G | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.200 | 19 | 2176587 | intron variant | A/G | snv | 0.46 |
|
Musculoskeletal Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 |