ELOVL2, ELOVL fatty acid elongase 2, 54898
N. diseases: 26; N. variants: 41
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 11018579 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 11004328 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 11002911 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 10983738 | 3 prime UTR variant | C/A;G;T | snv | 0.54; 5.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 10980820 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 11044959 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 11012626 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
6 | 11008416 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 10989709 | synonymous variant | G/A | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 6 | 10982126 | 3 prime UTR variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
6 | 11025187 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11042676 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11036592 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 10990518 | intron variant | T/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11032931 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11001043 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11002550 | intron variant | G/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 11041932 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
6 | 11005453 | synonymous variant | G/A | snv | 0.22 | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.200 | 6 | 11021921 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
6 | 11033392 | intron variant | G/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 10990260 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11041487 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11035739 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |