ESR1, estrogen receptor 1, 2099
N. diseases: 1101; N. variants: 185
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 | 6 | 151807928 | missense variant | C/T | snv | 3.3E-03 | 3.1E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.760 | 1.000 | 9 | 2000 | 2013 | ||||||||
|
0.882 | 0.080 | 6 | 151944323 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||||
|
0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 6 | 151944233 | missense variant | G/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 6 | 151944239 | missense variant | G/C | snv | 3.6E-05 | 3.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 1.000 | 11 | 2007 | 2020 | |||||||
|
0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.070 | 0.857 | 7 | 2007 | 2020 | |||||||
|
0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 1.000 | 6 | 2007 | 2015 | ||||||
|
0.925 | 0.080 | 6 | 151808318 | missense variant | C/T | snv | 2.4E-04 | 1.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.851 | 0.120 | 6 | 151808173 | synonymous variant | G/A;C | snv | 6.6E-02 | 7.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 6 | 151963323 | intron variant | G/A | snv | 0.80 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 1.000 | 6 | 2009 | 2018 | |||||||
|
0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 6 | 152125285 | synonymous variant | A/G | snv | 3.4E-05 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 6 | 151808207 | missense variant | C/G;T | snv | 5.6E-06; 5.6E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.724 | 0.360 | 6 | 152098960 | synonymous variant | G/A | snv | 0.19 | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.833 | 6 | 2010 | 2016 | ||||||
|
0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2010 | 2016 | |||||||
|
0.882 | 0.120 | 6 | 152011735 | synonymous variant | C/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.160 | 6 | 151666222 | intron variant | G/T | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 3 | 2011 | 2014 | |||||||
|
0.925 | 0.080 | 6 | 151653287 | upstream gene variant | C/T | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.851 | 0.160 | 6 | 151842617 | missense variant | G/A | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.925 | 0.080 | 6 | 152074901 | intron variant | T/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |