FBN1, fibrillin 1, 2200
N. diseases: 552; N. variants: 1105
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 | 0.040 | 15 | 48622578 | intron variant | T/C | snv | 7.5E-02 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48410676 | 3 prime UTR variant | G/A | snv | 0.64 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48482091 | intron variant | A/C;G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 48490366 | intron variant | T/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 48591499 | intron variant | T/C | snv | 0.19 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48497437 | intron variant | T/C | snv | 0.28 | 0.35 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 15 | 48638448 | intron variant | T/C | snv | 0.24 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48413009 | intron variant | T/C | snv | 0.65 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48514342 | intron variant | C/T | snv | 0.16 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48424656 | intron variant | T/C;G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 48436437 | intron variant | C/T | snv | 0.66 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.040 | 15 | 48623687 | intron variant | T/C | snv | 0.23 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48639254 | intron variant | T/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 48447077 | intron variant | A/G | snv | 0.67 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48444487 | intron variant | A/T | snv | 0.66 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48513440 | intron variant | G/A | snv | 0.37 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48633805 | intron variant | G/A | snv | 0.40 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48567536 | intron variant | A/G | snv | 0.35 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 15 | 48467094 | intron variant | G/T | snv | 0.34 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48451808 | intron variant | T/C | snv | 0.76 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48543738 | intron variant | C/T | snv | 0.33 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 15 | 48548638 | intron variant | C/T | snv | 7.7E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 15 | 48517231 | intron variant | G/A | snv | 0.17 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48527305 | intron variant | G/A | snv | 0.49 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |