RTEL1, regulator of telomere elongation helicase 1, 51750
N. diseases: 321; N. variants: 82
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
Neoplasms | 0.900 | 0.952 | 21 | 2009 | 2020 | ||||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
Neoplasms | 0.820 | 1.000 | 5 | 2009 | 2018 | |||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.810 | 0.667 | 3 | 2011 | 2015 | ||||||||
|
0.882 | 0.120 | 20 | 63687765 | missense variant | G/T | snv | 4.9E-05 | 7.0E-06 |
|
0.800 | 1.000 | 8 | 2009 | 2016 | |||||||
|
0.925 | 0.120 | 20 | 63693160 | missense variant | C/A;G;T | snv | 1.2E-05; 4.0E-06; 4.0E-05 |
|
0.800 | 1.000 | 6 | 2013 | 2017 | ||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
Neoplasms; Nervous System Diseases | 0.800 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 |
|
Neoplasms; Nervous System Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 |
|
Neoplasms | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 20 | 63695093 | missense variant | A/C | snv |
|
0.800 | 0 | |||||||||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
Neoplasms | 0.730 | 1.000 | 5 | 2010 | 2018 | |||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
Neoplasms | 0.730 | 1.000 | 5 | 2010 | 2018 | |||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 |
|
0.700 | 1.000 | 6 | 2013 | 2015 | |||||||
|
0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 |
|
0.700 | 1.000 | 6 | 2013 | 2015 | |||||||
|
1.000 | 20 | 63693183 | missense variant | T/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 20 | 63687765 | missense variant | G/T | snv | 4.9E-05 | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2009 | 2016 | |||||||
|
1.000 | 20 | 63690161 | missense variant | G/T | snv |
|
0.700 | 1.000 | 5 | 2013 | 2013 | ||||||||||
|
0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 |
|
0.700 | 1.000 | 5 | 2013 | 2017 | ||||||||
|
1.000 | 20 | 63672607 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 2013 | 2013 | ||||||||||
|
0.851 | 0.120 | 20 | 63693247 | stop gained | C/A;T | snv | 8.0E-06; 7.2E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.851 | 0.120 | 20 | 63693247 | stop gained | C/A;T | snv | 8.0E-06; 7.2E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2013 | 2015 | |||||||
|
0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2013 | 2015 |