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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 19 | 11111630 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 11113295 | frameshift variant | TT/- | del |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 19 | 11107491 | stop gained | C/A;G;T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 11107513 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 19 | 11113262 | coding sequence variant | -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC | delins |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 19 | 11105408 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 19 | 11110658 | missense variant | A/C;G | snv | 1.6E-05 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.200 | 19 | 11128085 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 19 | 11120380 | stop gained | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 11116125 | missense variant | G/A;T | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 19 | 11102719 | stop gained | C/A | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 19 | 11105378 | frameshift variant | T/- | del |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 11105433 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 19 | 11105517 | missense variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 19 | 11107470 | frameshift variant | C/- | del |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 11107493 | missense variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 19 | 11113314 | missense variant | A/C;T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 19 | 11113570 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 19 | 11116140 | missense variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 19 | 11116168 | stop gained | -/GCTGGTGA | delins |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 19 | 11120091 | splice acceptor variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 11120475 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 19 | 11129512 | splice acceptor variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Eye Diseases | 0.700 | 0 |