PKD1L1, polycystin 1 like 1, transient receptor potential channel interacting, 168507
N. diseases: 18; N. variants: 4
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 | 0.040 | 7 | 47838297 | intron variant | G/A | snv | 3.1E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 7 | 47838297 | intron variant | G/A | snv | 3.1E-03 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 |
|
0.700 | 0 |