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 | ||||||||||
|
1.000 | 0.040 | 6 | 51786884 | intron variant | C/G | snv | 0.58 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
6 | 51628064 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 51882440 | intron variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 51872379 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 6 | 51800799 | intron variant | T/A;C | snv | 0.75 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
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 | ||||||||||
|
1.000 | 0.040 | 6 | 51791701 | intron variant | T/C | snv | 0.58 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51791753 | intron variant | G/A | snv | 0.58 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51774079 | intron variant | T/C | snv | 0.19 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51778470 | intron variant | C/T | snv | 0.57 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51773363 | intron variant | T/C | snv | 0.19 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51791590 | intron variant | A/G | snv | 0.58 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51790609 | intron variant | A/G | snv | 0.58 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51772913 | intron variant | C/T | snv | 0.19 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51789633 | intron variant | T/C | snv | 0.15 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 51778216 | intron variant | C/T | snv | 0.56 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
6 | 51973465 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 6 | 51755123 | intron variant | T/C | snv | 0.31 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |