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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||
|
1.000 | 0.080 | 6 | 152115881 | intron variant | T/C | snv | 0.53 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 6 | 151734843 | intron variant | A/T | snv | 9.7E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 6 | 151859461 | intron variant | A/G | snv | 1.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 1.000 | 10 | 2007 | 2020 | |||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.080 | 1.000 | 8 | 2004 | 2010 | ||||||||
|
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 | |||||||
|
0.742 | 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 | |||||||
|
0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2007 | 2015 | ||||||
|
0.724 | 0.360 | 6 | 152098960 | synonymous variant | G/A | snv | 0.19 | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 0.800 | 5 | 2010 | 2016 | ||||||
|
0.882 | 0.080 | 6 | 151944323 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2005 | 2007 | ||||||
|
0.882 | 0.120 | 6 | 151797984 | intron variant | T/G | snv | 0.35 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||||
|
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 | |||||||
|
0.882 | 0.080 | 6 | 152102770 | 3 prime UTR variant | T/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2015 | 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 | 151944316 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||||
|
0.925 | 0.080 | 6 | 151842614 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.080 | 6 | 151719156 | intron variant | T/C | snv | 0.27 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
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 | |||||||
|
0.882 | 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 | |||||||
|
0.925 | 0.080 | 6 | 152125331 | missense variant | T/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | ||||||
|
0.925 | 0.080 | 6 | 151808264 | missense variant | T/C | snv | 4.4E-03 | 4.3E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
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 |