CYP19A1, cytochrome P450 family 19 subfamily A member 1, 1588
N. diseases: 519; N. variants: 77
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.818 | 11 | 2008 | 2018 | ||||||
|
0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 1.000 | 10 | 2008 | 2015 | ||||||
|
0.752 | 0.280 | 15 | 51215771 | missense variant | G/A | snv | 7.6E-02 | 8.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.070 | 0.714 | 7 | 2003 | 2016 | ||||||
|
0.851 | 0.120 | 15 | 51242798 | missense variant | A/G | snv | 3.4E-03 | 9.1E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2002 | 2010 | ||||||
|
0.790 | 0.200 | 15 | 51243825 | intron variant | C/T | snv | 0.36 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2008 | 2019 | |||||||
|
0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2014 | 2015 | ||||||
|
0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.925 | 0.080 | 15 | 51321614 | non coding transcript exon variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 15 | 51212614 | intron variant | A/C;T | snv | 0.43 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 15 | 51256508 | intron variant | G/T | snv | 0.58 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 15 | 51242801 | missense variant | C/T | snv | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 15 | 51308944 | intron variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 15 | 51314513 | intron variant | A/G | snv | 0.13 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 15 | 51339082 | upstream gene variant | C/T | snv | 0.21 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 15 | 51299007 | intron variant | T/C | snv | 0.30 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 15 | 51242874 | missense variant | G/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 15 | 51287401 | intron variant | C/T | snv | 0.30 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |