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 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 3 | 2013 | 2018 | |||||||
|
1.000 | 0.040 | 19 | 11116804 | intron variant | A/C | snv | 0.65 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2008 | 2020 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2001 | 2003 | |||||||
|
1.000 | 0.040 | 19 | 11102673 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.882 | 0.160 | 19 | 11131982 | 3 prime UTR variant | T/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 19 | 11095364 | intron variant | C/T | snv | 1.1E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.040 | 19 | 11100245 | missense variant | C/G;T | snv | 2.3E-03 | 9.4E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
1.000 | 0.040 | 19 | 11120527 | splice region variant | G/A | snv | 7.4E-03 | 7.5E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 19 | 11105229 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.120 | 19 | 11111523 | missense variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.882 | 0.120 | 19 | 11105589 | missense variant | A/C;G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.882 | 0.120 | 19 | 11113368 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 |