FGFR2, fibroblast growth factor receptor 2, 2263
N. diseases: 731; N. variants: 141
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 10 | 121515162 | synonymous variant | A/G;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 10 | 121574483 | intron variant | C/T | snv | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.790 | 0.909 | 11 | 2007 | 2018 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 0.971 | 35 | 2007 | 2019 | |||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 24 | 2007 | 2018 | ||||||||
|
0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.770 | 1.000 | 9 | 2007 | 2017 | |||||||
|
0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 1.000 | 7 | 2009 | 2017 | |||||||
|
0.882 | 0.120 | 10 | 121574943 | intron variant | G/A | snv | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2007 | 2012 | |||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 10 | 121586602 | intron variant | G/A | snv | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2007 | 2010 | |||||||
|
0.851 | 0.080 | 10 | 121573063 | intron variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 0.080 | 10 | 121579461 | intron variant | A/G;T | snv | 0.34 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 10 | 121588875 | intron variant | T/C | snv | 0.41 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 10 | 121496653 | missense variant | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 10 | 121589148 | intron variant | T/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 10 | 121589388 | intron variant | T/C | snv | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.080 | 10 | 121580918 | intron variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 10 | 121593750 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 10 | 121565562 | missense variant | C/A;T | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |