LDLR, low density lipoprotein receptor, 3949
N. diseases: 336; N. variants: 1434
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.700 | 1.000 | 10 | 2008 | 2013 | ||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
19 | 11091784 | intron variant | T/A | snv | 6.4E-03 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
19 | 11087511 | upstream gene variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
19 | 11089332 | upstream gene variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
19 | 11103857 | non coding transcript exon variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 11116650 | intron variant | C/A;G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 11118289 | intron variant | C/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 11118542 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 11125504 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 11132769 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.200 | 19 | 11120205 | synonymous variant | T/C | snv | 0.42 | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.200 | 19 | 11113589 | synonymous variant | A/G | snv | 0.63 | 0.66 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
19 | 11131239 | intron variant | A/G | snv | 0.45 | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 11095899 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 11095299 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 11095854 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |