PKD2L1, polycystin 2 like 1, transient receptor potential cation channel, 9033
N. diseases: 124; N. variants: 10
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 100289222 | intron variant | G/T | snv | 7.6E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 100296751 | intron variant | A/G | snv | 0.58 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 100295789 | intron variant | C/A | snv | 0.57 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
10 | 100344764 | intron variant | C/T | snv | 0.39 | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 100296259 | stop gained | G/A;C | snv | 1.4E-02; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 100297033 | missense variant | G/A | snv | 1.3E-02 | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 10 | 100297067 | synonymous variant | A/G | snv | 4.0E-06 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.120 | 10 | 100293336 | missense variant | T/C;G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 10 | 100299692 | missense variant | C/T | snv | 6.0E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 10 | 100299692 | missense variant | C/T | snv | 6.0E-05 | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |