PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, 5314
N. diseases: 115; N. variants: 324
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 51967696 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
6 | 51628064 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 51872379 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 51672194 | intron variant | G/A;C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 51824798 | intron variant | G/A | snv | 1.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 51770381 | intron variant | C/T | snv | 1.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 51819190 | intron variant | C/T | snv | 1.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 51969222 | intron variant | C/A | snv | 0.38 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 51757651 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 51757651 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 51847961 | missense variant | T/C | snv | 2.1E-03 | 7.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
6 | 51973465 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 51857895 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.240 | 6 | 52083201 | missense variant | G/A | snv | 4.5E-04 | 4.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.810 | 1.000 | 19 | 2002 | 2015 | ||||||
|
0.925 | 0.120 | 6 | 52071009 | missense variant | T/C;G | snv | 1.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||||
|
0.925 | 0.120 | 6 | 52050157 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 12 | 2002 | 2015 | ||||||
|
0.925 | 0.120 | 6 | 52024940 | missense variant | G/A | snv | 1.5E-04 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 8 | 1975 | 2016 | ||||||
|
0.925 | 0.120 | 6 | 52071009 | missense variant | T/C;G | snv | 1.0E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 4 | 2002 | 2010 | |||||||
|
0.925 | 0.120 | 6 | 52050157 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 4 | 2002 | 2010 | ||||||
|
0.925 | 0.240 | 6 | 52058349 | stop gained | G/A;C | snv | 6.6E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 3 | 2003 | 2010 | |||||||
|
0.925 | 0.120 | 6 | 52079920 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2005 | 2016 | ||||||
|
0.925 | 0.240 | 6 | 52083201 | missense variant | G/A | snv | 4.5E-04 | 4.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.240 | 6 | 52058349 | stop gained | G/A;C | snv | 6.6E-04; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.240 | 6 | 52026044 | frameshift variant | G/- | delins | 5.1E-04 | 2.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.240 | 6 | 52026044 | frameshift variant | G/- | delins | 5.1E-04 | 2.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |