EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit, 2146
N. diseases: 653; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 7 | 148810372 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 148807689 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 148809351 | missense variant | C/T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 148807681 | inframe insertion | -/TTC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 148809340 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 148829818 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 148807666 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 148809078 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 7 | 148829806 | missense variant | C/G | snv |
|
0.700 | 1.000 | 5 | 1998 | 2013 | ||||||||||
|
1.000 | 7 | 148829806 | missense variant | C/G | snv |
|
0.700 | 1.000 | 5 | 1998 | 2013 | ||||||||||
|
0.752 | 0.200 | 7 | 148827660 | intron variant | C/T | snv | 0.80 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.200 | 7 | 148827660 | intron variant | C/T | snv | 0.80 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.200 | 7 | 148827660 | intron variant | C/T | snv | 0.80 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.120 | 7 | 148884496 | upstream gene variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 7 | 148884496 | upstream gene variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 7 | 148884496 | upstream gene variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 7 | 148809376 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
1.000 | 0.120 | 7 | 148807669 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
1.000 | 0.120 | 7 | 148811696 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
1.000 | 0.120 | 7 | 148809370 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.720 | 1.000 | 4 | 2012 | 2016 | ||||||||
|
0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |